{"id":"https://openalex.org/W2949083661","doi":"https://doi.org/10.1089/cmb.2018.0199","title":"INDEX-db: The Indian Exome Reference Database (Phase I)","display_name":"INDEX-db: The Indian Exome Reference Database (Phase I)","publication_year":2019,"publication_date":"2019-01-07","ids":{"openalex":"https://openalex.org/W2949083661","doi":"https://doi.org/10.1089/cmb.2018.0199","mag":"2949083661","pmid":"https://pubmed.ncbi.nlm.nih.gov/30615482"},"language":"en","primary_location":{"id":"doi:10.1089/cmb.2018.0199","is_oa":true,"landing_page_url":"https://doi.org/10.1089/cmb.2018.0199","pdf_url":"https://www.liebertpub.com/doi/pdf/10.1089/cmb.2018.0199","source":{"id":"https://openalex.org/S78571599","display_name":"Journal of Computational Biology","issn_l":"1066-5277","issn":["1066-5277","1557-8666"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310320443","host_organization_name":"Mary Ann Liebert, Inc.","host_organization_lineage":["https://openalex.org/P4310320443"],"host_organization_lineage_names":["Mary Ann Liebert, Inc."],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Computational Biology","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://www.liebertpub.com/doi/pdf/10.1089/cmb.2018.0199","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5023308356","display_name":"Husayn Ahmed Pallikonda","orcid":"https://orcid.org/0000-0003-4472-2067"},"institutions":[{"id":"https://openalex.org/I194223965","display_name":"National Centre for Biological Sciences","ror":"https://ror.org/03gf8rp76","country_code":"IN","type":"facility","lineage":["https://openalex.org/I11947397","https://openalex.org/I194223965","https://openalex.org/I2799351866","https://openalex.org/I3149292468"]},{"id":"https://openalex.org/I4210153885","display_name":"Institute of Bioinformatics and Applied Biotechnology","ror":"https://ror.org/04qcpkd70","country_code":"IN","type":"facility","lineage":["https://openalex.org/I4210153885"]}],"countries":["IN"],"is_corresponding":true,"raw_author_name":"Husayn Ahmed P","raw_affiliation_strings":["Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), National Centre for Biological Sciences, Tata Institute of Fundamental Research (NCBS-TIFR), Bengaluru, India","Institute of Bioinformatics and Applied Biotechnology (IBAB), Bengaluru, India"],"affiliations":[{"raw_affiliation_string":"Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), National Centre for Biological Sciences, Tata Institute of Fundamental Research (NCBS-TIFR), Bengaluru, India","institution_ids":["https://openalex.org/I194223965"]},{"raw_affiliation_string":"Institute of Bioinformatics and Applied Biotechnology (IBAB), Bengaluru, India","institution_ids":["https://openalex.org/I4210153885"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101937314","display_name":"V. Vidhya","orcid":null},"institutions":[{"id":"https://openalex.org/I194223965","display_name":"National Centre for Biological Sciences","ror":"https://ror.org/03gf8rp76","country_code":"IN","type":"facility","lineage":["https://openalex.org/I11947397","https://openalex.org/I194223965","https://openalex.org/I2799351866","https://openalex.org/I3149292468"]},{"id":"https://openalex.org/I4210087873","display_name":"Institute for Stem Cell Biology and Regenerative Medicine","ror":"https://ror.org/007wpch15","country_code":"IN","type":"facility","lineage":["https://openalex.org/I2799351866","https://openalex.org/I3141573830","https://openalex.org/I4210087873","https://openalex.org/I4210134808"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Vidhya V","raw_affiliation_strings":["Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), Centre for Brain Development and Repair (CBDR), Institute for Stem Cell Biology and Regenerative Medicine (InStem), Bengaluru, India","Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), National Centre for Biological Sciences, Tata Institute of Fundamental Research (NCBS-TIFR), Bengaluru, India"],"affiliations":[{"raw_affiliation_string":"Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), Centre for Brain Development and Repair (CBDR), Institute for Stem Cell Biology and Regenerative Medicine (InStem), Bengaluru, India","institution_ids":["https://openalex.org/I4210087873"]},{"raw_affiliation_string":"Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), National Centre for Biological Sciences, Tata Institute of Fundamental Research (NCBS-TIFR), Bengaluru, India","institution_ids":["https://openalex.org/I194223965"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112337308","display_name":"Ravi Prabhakar More","orcid":null},"institutions":[{"id":"https://openalex.org/I194223965","display_name":"National Centre for Biological Sciences","ror":"https://ror.org/03gf8rp76","country_code":"IN","type":"facility","lineage":["https://openalex.org/I11947397","https://openalex.org/I194223965","https://openalex.org/I2799351866","https://openalex.org/I3149292468"]},{"id":"https://openalex.org/I4210087873","display_name":"Institute for Stem Cell Biology and Regenerative Medicine","ror":"https://ror.org/007wpch15","country_code":"IN","type":"facility","lineage":["https://openalex.org/I2799351866","https://openalex.org/I3141573830","https://openalex.org/I4210087873","https://openalex.org/I4210134808"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Ravi Prabhakar More","raw_affiliation_strings":["Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), National Centre for Biological Sciences, Tata Institute of Fundamental Research (NCBS-TIFR), Bengaluru, India","Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), Centre for Brain Development and Repair (CBDR), Institute for Stem Cell Biology and Regenerative Medicine (InStem), Bengaluru, India"],"affiliations":[{"raw_affiliation_string":"Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), National Centre for Biological Sciences, Tata Institute of Fundamental Research (NCBS-TIFR), Bengaluru, India","institution_ids":["https://openalex.org/I194223965"]},{"raw_affiliation_string":"Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), Centre for Brain Development and Repair (CBDR), Institute for Stem Cell Biology and Regenerative Medicine (InStem), Bengaluru, India","institution_ids":["https://openalex.org/I4210087873"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042407848","display_name":"Biju Viswanath","orcid":"https://orcid.org/0000-0002-7317-1789"},"institutions":[{"id":"https://openalex.org/I699696","display_name":"National Institute of Mental Health and Neurosciences","ror":"https://ror.org/0405n5e57","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I699696"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Biju Viswanath","raw_affiliation_strings":["Department of Psychiatry, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India"],"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India","institution_ids":["https://openalex.org/I699696"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026751784","display_name":"Sanjeev Jain","orcid":"https://orcid.org/0000-0002-9508-351X"},"institutions":[{"id":"https://openalex.org/I699696","display_name":"National Institute of Mental Health and Neurosciences","ror":"https://ror.org/0405n5e57","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I699696"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Sanjeev Jain","raw_affiliation_strings":["Department of Psychiatry, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India"],"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India","institution_ids":["https://openalex.org/I699696"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111365293","display_name":"Mahendra S. Rao","orcid":null},"institutions":[{"id":"https://openalex.org/I4210087873","display_name":"Institute for Stem Cell Biology and Regenerative Medicine","ror":"https://ror.org/007wpch15","country_code":"IN","type":"facility","lineage":["https://openalex.org/I2799351866","https://openalex.org/I3141573830","https://openalex.org/I4210087873","https://openalex.org/I4210134808"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Mahendra S. Rao","raw_affiliation_strings":["Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), Centre for Brain Development and Repair (CBDR), Institute for Stem Cell Biology and Regenerative Medicine (InStem), Bengaluru, India"],"affiliations":[{"raw_affiliation_string":"Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), Centre for Brain Development and Repair (CBDR), Institute for Stem Cell Biology and Regenerative Medicine (InStem), Bengaluru, India","institution_ids":["https://openalex.org/I4210087873"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077802428","display_name":"Odity Mukherjee","orcid":"https://orcid.org/0000-0001-5670-7433"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Odity Mukherjee","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042407848","display_name":"Biju Viswanath","orcid":"https://orcid.org/0000-0002-7317-1789"},"institutions":[{"id":"https://openalex.org/I699696","display_name":"National Institute of Mental Health and Neurosciences","ror":"https://ror.org/0405n5e57","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I699696"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Biju Viswanath","raw_affiliation_strings":["Department of Psychiatry, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India"],"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India","institution_ids":["https://openalex.org/I699696"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063734487","display_name":"Naren P. Rao","orcid":"https://orcid.org/0000-0001-9272-1873"},"institutions":[{"id":"https://openalex.org/I4210087873","display_name":"Institute for Stem Cell Biology and Regenerative Medicine","ror":"https://ror.org/007wpch15","country_code":"IN","type":"facility","lineage":["https://openalex.org/I2799351866","https://openalex.org/I3141573830","https://openalex.org/I4210087873","https://openalex.org/I4210134808"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Naren P. Rao","raw_affiliation_strings":["Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), Centre for Brain Development and Repair (CBDR), Institute for Stem Cell Biology and Regenerative Medicine (InStem), Bengaluru, India"],"affiliations":[{"raw_affiliation_string":"Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), Centre for Brain Development and Repair (CBDR), Institute for Stem Cell Biology and Regenerative Medicine (InStem), Bengaluru, India","institution_ids":["https://openalex.org/I4210087873"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022083407","display_name":"Janardhanan C. Narayanaswamy","orcid":"https://orcid.org/0000-0002-4724-5836"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Janardhanan C. Narayanaswamy","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064633776","display_name":"Palanimuthu Thangaraju Sivakumar","orcid":"https://orcid.org/0000-0001-9802-2520"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Palanimuthu T. Sivakumar","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5096278195","display_name":"ArunKandaswamy","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"ArunKandaswamy","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5096278196","display_name":"MuralidharanKesavan","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"MuralidharanKesavan","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034733645","display_name":"Urvakhsh-Meherwan Mehta","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Urvakhsh-Meherwan Mehta","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5096056969","display_name":"GanesanVenkatasubramanian","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"GanesanVenkatasubramanian","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065718043","display_name":"John P. John","orcid":"https://orcid.org/0000-0001-6756-0297"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"John P. John","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077802428","display_name":"Odity Mukherjee","orcid":"https://orcid.org/0000-0001-5670-7433"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Odity Mukherjee","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5096278197","display_name":"MeeraPurushottam","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"MeeraPurushottam","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039440277","display_name":"R. Kannan","orcid":"https://orcid.org/0000-0001-7717-0516"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"RamakrishnanKannan","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079347417","display_name":"Bhupesh Mehta","orcid":"https://orcid.org/0000-0001-5196-6436"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bhupesh Mehta","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5096056970","display_name":"ThennarasuKandavel","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"ThennarasuKandavel","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"B. Binukumar","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"B. Binukumar","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5096278198","display_name":"JitenderSaini","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"JitenderSaini","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050389992","display_name":"Deepak Jayarajan","orcid":"https://orcid.org/0000-0001-8906-4737"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Deepak Jayarajan","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050973379","display_name":"A. Shyamsundar","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Shyamsundar","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003473372","display_name":"Sydney Moirangthem","orcid":"https://orcid.org/0000-0001-5346-4675"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sydney Moirangthem","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110617651","display_name":"Kumar G. Vijay","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kumar G. Vijay","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5096245877","display_name":"JagadishaThirthalli","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"JagadishaThirthalli","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072891455","display_name":"Prabha S. Chandra","orcid":"https://orcid.org/0000-0003-2902-6389"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Prabha S. Chandra","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072047239","display_name":"Bangalore N. Gangadhar","orcid":"https://orcid.org/0000-0002-9887-6515"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bangalore N. Gangadhar","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032167054","display_name":"Pratima Murthy","orcid":"https://orcid.org/0000-0002-7738-9670"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Pratima Murthy","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004814766","display_name":"Mitradas M. Panicker","orcid":"https://orcid.org/0000-0002-0782-6222"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mitradas M. Panicker","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066858212","display_name":"Upinder S. Bhalla","orcid":"https://orcid.org/0000-0003-1722-5188"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Upinder S Bhalla","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5096278199","display_name":"SumantraChattarji","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"SumantraChattarji","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5096160466","display_name":"VivekBenegal","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"VivekBenegal","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030377741","display_name":"Mathew Varghese","orcid":"https://orcid.org/0000-0001-5670-5710"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mathew Varghese","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109762774","display_name":"Janardhan Y. C. Reddy","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Janardhan YC Reddy","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033674891","display_name":"Padinjat Raghu","orcid":"https://orcid.org/0000-0003-3578-6413"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Padinjat Raghu","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5096079367","display_name":"MahendraRao","orcid":null},"institutions":[{"id":"https://openalex.org/I4210087873","display_name":"Institute for Stem Cell Biology and Regenerative Medicine","ror":"https://ror.org/007wpch15","country_code":"IN","type":"facility","lineage":["https://openalex.org/I2799351866","https://openalex.org/I3141573830","https://openalex.org/I4210087873","https://openalex.org/I4210134808"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"MahendraRao","raw_affiliation_strings":["Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), Centre for Brain Development and Repair (CBDR), Institute for Stem Cell Biology and Regenerative Medicine (InStem), Bengaluru, India"],"affiliations":[{"raw_affiliation_string":"Accelerator Program for Discovery in Brain Disorders Using Stem Cells (ADBS), Centre for Brain Development and Repair (CBDR), Institute for Stem Cell Biology and Regenerative Medicine (InStem), Bengaluru, India","institution_ids":["https://openalex.org/I4210087873"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5026751784","display_name":"Sanjeev Jain","orcid":"https://orcid.org/0000-0002-9508-351X"},"institutions":[{"id":"https://openalex.org/I699696","display_name":"National Institute of Mental Health and Neurosciences","ror":"https://ror.org/0405n5e57","country_code":"IN","type":"healthcare","lineage":["https://openalex.org/I699696"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Sanjeev Jain","raw_affiliation_strings":["Department of Psychiatry, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India"],"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India","institution_ids":["https://openalex.org/I699696"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":40,"corresponding_author_ids":["https://openalex.org/A5023308356"],"corresponding_institution_ids":["https://openalex.org/I194223965","https://openalex.org/I4210153885"],"apc_list":null,"apc_paid":null,"fwci":2.1522,"has_fulltext":true,"cited_by_count":15,"citation_normalized_percentile":{"value":0.87859159,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":97},"biblio":{"volume":"26","issue":"3","first_page":"225","last_page":"234"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9998000264167786,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9998000264167786,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9962000250816345,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.623115062713623},{"id":"https://openalex.org/keywords/genetic-association","display_name":"Genetic association","score":0.5326307415962219},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.5114377737045288},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.5030946135520935},{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.4935191869735718},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.4687903821468353},{"id":"https://openalex.org/keywords/genetic-variation","display_name":"Genetic variation","score":0.4587782323360443},{"id":"https://openalex.org/keywords/selection","display_name":"Selection (genetic algorithm)","score":0.43503454327583313},{"id":"https://openalex.org/keywords/index","display_name":"Index (typography)","score":0.42475077509880066},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.4149308204650879},{"id":"https://openalex.org/keywords/database","display_name":"Database","score":0.3541688919067383},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.3485613465309143},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.34301650524139404},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.2843858003616333},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.24008110165596008},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.2067304253578186},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.18024468421936035},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.1139756441116333},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.08316388726234436},{"id":"https://openalex.org/keywords/world-wide-web","display_name":"World Wide Web","score":0.05742928385734558}],"concepts":[{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.623115062713623},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.5326307415962219},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.5114377737045288},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5030946135520935},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4935191869735718},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4687903821468353},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.4587782323360443},{"id":"https://openalex.org/C81917197","wikidata":"https://www.wikidata.org/wiki/Q628760","display_name":"Selection (genetic algorithm)","level":2,"score":0.43503454327583313},{"id":"https://openalex.org/C2777382242","wikidata":"https://www.wikidata.org/wiki/Q6017816","display_name":"Index (typography)","level":2,"score":0.42475077509880066},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.4149308204650879},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.3541688919067383},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3485613465309143},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.34301650524139404},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.2843858003616333},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.24008110165596008},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.2067304253578186},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.18024468421936035},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1139756441116333},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.08316388726234436},{"id":"https://openalex.org/C136764020","wikidata":"https://www.wikidata.org/wiki/Q466","display_name":"World Wide Web","level":1,"score":0.05742928385734558},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000592","qualifier_name":"standards","is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000592","qualifier_name":"standards","is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000592","qualifier_name":"standards","is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000592","qualifier_name":"standards","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007194","descriptor_name":"India","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007194","descriptor_name":"India","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007194","descriptor_name":"India","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007194","descriptor_name":"India","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011153","descriptor_name":"Population","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011153","descriptor_name":"Population","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011153","descriptor_name":"Population","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011153","descriptor_name":"Population","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012015","descriptor_name":"Reference Standards","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012015","descriptor_name":"Reference Standards","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012015","descriptor_name":"Reference Standards","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012015","descriptor_name":"Reference Standards","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000592","qualifier_name":"standards","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000592","qualifier_name":"standards","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000592","qualifier_name":"standards","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000592","qualifier_name":"standards","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1089/cmb.2018.0199","is_oa":true,"landing_page_url":"https://doi.org/10.1089/cmb.2018.0199","pdf_url":"https://www.liebertpub.com/doi/pdf/10.1089/cmb.2018.0199","source":{"id":"https://openalex.org/S78571599","display_name":"Journal of Computational Biology","issn_l":"1066-5277","issn":["1066-5277","1557-8666"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310320443","host_organization_name":"Mary Ann Liebert, Inc.","host_organization_lineage":["https://openalex.org/P4310320443"],"host_organization_lineage_names":["Mary Ann Liebert, Inc."],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Computational Biology","raw_type":"journal-article"},{"id":"pmid:30615482","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30615482","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of computational biology : a journal of computational molecular cell biology","raw_type":null},{"id":"pmh:oai:europepmc.org:5426495","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6441288","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1089/cmb.2018.0199","is_oa":true,"landing_page_url":"https://doi.org/10.1089/cmb.2018.0199","pdf_url":"https://www.liebertpub.com/doi/pdf/10.1089/cmb.2018.0199","source":{"id":"https://openalex.org/S78571599","display_name":"Journal of Computational Biology","issn_l":"1066-5277","issn":["1066-5277","1557-8666"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310320443","host_organization_name":"Mary Ann Liebert, Inc.","host_organization_lineage":["https://openalex.org/P4310320443"],"host_organization_lineage_names":["Mary Ann Liebert, Inc."],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Computational Biology","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G2703011720","display_name":null,"funder_award_id":"NCBS-TIFR","funder_id":"https://openalex.org/F4320335065","funder_display_name":"National Centre for Biological Sciences"}],"funders":[{"id":"https://openalex.org/F4320318855","display_name":"National Institute of Mental Health and Neurosciences","ror":"https://ror.org/0405n5e57"},{"id":"https://openalex.org/F4320320715","display_name":"Tata Institute of Fundamental Research","ror":"https://ror.org/03ht1xw27"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320332167","display_name":"Directorate for Biological Sciences","ror":"https://ror.org/001xhss06"},{"id":"https://openalex.org/F4320335065","display_name":"National Centre for Biological Sciences","ror":"https://ror.org/03gf8rp76"},{"id":"https://openalex.org/F4320337346","display_name":"National Institute of Mental Health","ror":"https://ror.org/04xeg9z08"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2949083661.pdf","grobid_xml":"https://content.openalex.org/works/W2949083661.grobid-xml"},"referenced_works_count":47,"referenced_works":["https://openalex.org/W1828904010","https://openalex.org/W1905244645","https://openalex.org/W1973649519","https://openalex.org/W1984068087","https://openalex.org/W2009322758","https://openalex.org/W2013061337","https://openalex.org/W2016301101","https://openalex.org/W2027036934","https://openalex.org/W2059145105","https://openalex.org/W2061596350","https://openalex.org/W2074548625","https://openalex.org/W2074579392","https://openalex.org/W2084591827","https://openalex.org/W2092590432","https://openalex.org/W2094608047","https://openalex.org/W2095859808","https://openalex.org/W2103441770","https://openalex.org/W2104549677","https://openalex.org/W2108234281","https://openalex.org/W2109917005","https://openalex.org/W2111281047","https://openalex.org/W2114034064","https://openalex.org/W2118666364","https://openalex.org/W2121180999","https://openalex.org/W2133690031","https://openalex.org/W2139870060","https://openalex.org/W2143238378","https://openalex.org/W2149992227","https://openalex.org/W2152664025","https://openalex.org/W2155943701","https://openalex.org/W2161815151","https://openalex.org/W2162530578","https://openalex.org/W2166657289","https://openalex.org/W2167155938","https://openalex.org/W2168133698","https://openalex.org/W2217809488","https://openalex.org/W2235921384","https://openalex.org/W2256016639","https://openalex.org/W2278487942","https://openalex.org/W2292562514","https://openalex.org/W2466654534","https://openalex.org/W2506062421","https://openalex.org/W2528941395","https://openalex.org/W2619821731","https://openalex.org/W2772580011","https://openalex.org/W2793578202","https://openalex.org/W2950232895"],"related_works":["https://openalex.org/W2093932542","https://openalex.org/W4402567428","https://openalex.org/W2043256480","https://openalex.org/W2172231381","https://openalex.org/W1983406990","https://openalex.org/W2106924416","https://openalex.org/W2772505697","https://openalex.org/W3083501552","https://openalex.org/W2400191746","https://openalex.org/W2484239316"],"abstract_inverted_index":{"Deep":[0],"sequencing-based":[1],"genetic":[2,41,69,94],"mapping":[3],"has":[4],"greatly":[5],"enhanced":[6],"the":[7,30,38,66,84,102],"ability":[8],"to":[9,22,56,63,108],"catalog":[10],"variants":[11,20],"with":[12,48,105],"plausible":[13],"disease":[14,24,49,125],"association.":[15],"Confirming":[16],"how":[17],"these":[18],"identified":[19],"contribute":[21],"specific":[23],"conditions,":[25,50],"across":[26,51],"human":[27],"populations,":[28],"poses":[29],"next":[31],"challenge.":[32],"Differential":[33],"selection":[34],"pressure":[35],"may":[36],"impact":[37],"frequency":[39],"of":[40,46,68,86,89,93,113],"variations,":[42],"and":[43,130],"thus":[44,60],"detection":[45],"association":[47],"populations.":[52],"To":[53],"understand":[54,65],"genotype":[55],"phenotype":[57],"correlations,":[58],"it":[59],"becomes":[61],"important":[62],"first":[64],"spectrum":[67],"variation":[70],"within":[71],"a":[72,76,90,110],"population":[73],"by":[74],"creating":[75],"reference":[77],"map.":[78],"In":[79],"this":[80],"study,":[81],"we":[82],"report":[83],"development":[85],"phase":[87],"I":[88],"new":[91],"database":[92,99,112],"variations":[95],"called":[96],"INDian":[97],"EXome":[98],"(INDEX-db),":[100],"from":[101],"Indian":[103],"population,":[104],"an":[106],"aim":[107],"establish":[109],"centralized":[111],"integrated":[114],"information.":[115],"This":[116],"could":[117],"be":[118],"useful":[119],"for":[120],"researchers":[121],"involved":[122],"in":[123],"studying":[124],"mechanisms":[126],"at":[127],"clinical,":[128],"genetic,":[129],"cellular":[131],"levels.":[132]},"counts_by_year":[{"year":2024,"cited_by_count":2},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1}],"updated_date":"2026-04-16T08:26:57.006410","created_date":"2019-06-27T00:00:00"}