{"id":"https://openalex.org/W2126480703","doi":"https://doi.org/10.1186/1471-2164-14-468","title":"Variant discovery in targeted resequencing using whole genome amplified DNA","display_name":"Variant discovery in targeted resequencing using whole genome amplified DNA","publication_year":2013,"publication_date":"2013-01-01","ids":{"openalex":"https://openalex.org/W2126480703","doi":"https://doi.org/10.1186/1471-2164-14-468","mag":"2126480703","pmid":"https://pubmed.ncbi.nlm.nih.gov/23837845","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3716764"},"language":"en","primary_location":{"id":"doi:10.1186/1471-2164-14-468","doi":"https://doi.org/10.1186/1471-2164-14-468","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2164-14-468","pdf_url":"https://bmcgenomics.biomedcentral.com/counter/pdf/10.1186/1471-2164-14-468","source":{"id":"https://openalex.org/S28614077","display_name":"BMC Genomics","issn_l":"1471-2164","issn":["1471-2164"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Genomics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcgenomics.biomedcentral.com/counter/pdf/10.1186/1471-2164-14-468","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5076348998","display_name":"Amit R. Indap","orcid":"https://orcid.org/0000-0002-3322-4735","observed_orcids":["https://orcid.org/0000-0002-3322-4735"]},"institutions":[{"id":"https://openalex.org/I103531236","display_name":"Boston College","ror":"https://ror.org/02n2fzt79","country_code":"US","type":"education","lineage":["https://openalex.org/I103531236"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Amit R Indap","raw_affiliation_strings":["Department of Biology, Boston College, Chestnut Hill, MA, USA. indapa@gmail.com","Department of Biology, Boston College,Chestnut Hill,USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biology, Boston College, Chestnut Hill, MA, USA. indapa@gmail.com","institution_ids":["https://openalex.org/I103531236"]},{"raw_affiliation_string":"Department of Biology, Boston College,Chestnut Hill,USA","institution_ids":["https://openalex.org/I103531236"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003336222","display_name":"Regina Cole","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I204308271","display_name":"Medical College of Wisconsin","ror":"https://ror.org/00qqv6244","country_code":"US","type":"education","lineage":["https://openalex.org/I204308271"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Regina Cole","raw_affiliation_strings":["Biotechnology and Bioengineering Center, Medical College of Wisconsin, Milwaukee, WI, USA","Biotechnology and Bioengineering Center, Medical College of Wisconsin, Milwaukee, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biotechnology and Bioengineering Center, Medical College of Wisconsin, Milwaukee, WI, USA","institution_ids":["https://openalex.org/I204308271"]},{"raw_affiliation_string":"Biotechnology and Bioengineering Center, Medical College of Wisconsin, Milwaukee, USA","institution_ids":["https://openalex.org/I204308271"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070834812","display_name":"Christina L. Runge","orcid":"https://orcid.org/0000-0003-0330-5857","observed_orcids":["https://orcid.org/0000-0003-0330-5857"]},"institutions":[{"id":"https://openalex.org/I204308271","display_name":"Medical College of Wisconsin","ror":"https://ror.org/00qqv6244","country_code":"US","type":"education","lineage":["https://openalex.org/I204308271"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Christina L Runge","raw_affiliation_strings":["Department of Otolaryngology and Communication Sciences, Medical College of Wisconsin, Milwaukee, WI, USA","Department of Otolaryngology and Communication Sciences, Medical College of Wisconsin, Milwaukee,, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Otolaryngology and Communication Sciences, Medical College of Wisconsin, Milwaukee, WI, USA","institution_ids":["https://openalex.org/I204308271"]},{"raw_affiliation_string":"Department of Otolaryngology and Communication Sciences, Medical College of Wisconsin, Milwaukee,, USA","institution_ids":["https://openalex.org/I204308271"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000369565","display_name":"G\u00e1bor Marth","orcid":"https://orcid.org/0000-0003-0222-1694","observed_orcids":["https://orcid.org/0000-0003-0222-1694"]},"institutions":[{"id":"https://openalex.org/I103531236","display_name":"Boston College","ror":"https://ror.org/02n2fzt79","country_code":"US","type":"education","lineage":["https://openalex.org/I103531236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gabor T Marth","raw_affiliation_strings":["Department of Biology, Boston College, Chestnut Hill, MA, USA","Department of Biology, Boston College,Chestnut Hill,USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biology, Boston College, Chestnut Hill, MA, USA","institution_ids":["https://openalex.org/I103531236"]},{"raw_affiliation_string":"Department of Biology, Boston College,Chestnut Hill,USA","institution_ids":["https://openalex.org/I103531236"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5059469183","display_name":"Michael Olivier","orcid":"https://orcid.org/0000-0003-1632-1063","observed_orcids":["https://orcid.org/0000-0003-1632-1063"]},"institutions":[{"id":"https://openalex.org/I1289525096","display_name":"Texas Biomedical Research Institute","ror":"https://ror.org/00wbskb04","country_code":"US","type":"facility","lineage":["https://openalex.org/I1289525096"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael Olivier","raw_affiliation_strings":["Texas Biomedical Research Intitute, San Antonio, Texas, USA","Texas Biomedical Research Intitute, San Antonio, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Texas Biomedical Research Intitute, San Antonio, Texas, USA","institution_ids":["https://openalex.org/I1289525096"]},{"raw_affiliation_string":"Texas Biomedical Research Intitute, San Antonio, USA","institution_ids":["https://openalex.org/I1289525096"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5076348998"],"corresponding_institution_ids":["https://openalex.org/I103531236"],"apc_list":{"value":3090,"currency":"USD","value_usd":3090},"apc_paid":{"value":3090,"currency":"USD","value_usd":3090},"fwci":1.3138,"has_fulltext":true,"cited_by_count":8,"citation_normalized_percentile":{"value":0.80989305,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"14","issue":"1","first_page":"468","last_page":"468"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.7401999831199646,"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":0.7401999831199646,"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.22599999606609344,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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":0.010499999858438969,"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/whole-genome-amplification","display_name":"whole genome amplification","score":0.9409999847412109},{"id":"https://openalex.org/keywords/targeted-sequencing","display_name":"targeted sequencing","score":0.8949999809265137},{"id":"https://openalex.org/keywords/variant-discovery","display_name":"variant discovery","score":0.9279999732971191},{"id":"https://openalex.org/keywords/snp-calling","display_name":"SNP calling","score":0.5770000219345093},{"id":"https://openalex.org/keywords/indel-calling","display_name":"indel calling","score":0.8550000190734863},{"id":"https://openalex.org/keywords/low-input-dna-sequencing","display_name":"low-input DNA sequencing","score":0.49900001287460327}],"concepts":[{"id":"https://openalex.org/C119054055","wikidata":"https://www.wikidata.org/wiki/Q1576681","display_name":"Indel","level":5,"score":0.8241900205612183},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7565425634384155},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5952706336975098},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5209861397743225},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5123844742774963},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.5084413886070251},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.4955517053604126},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.48116335272789},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.4686286747455597},{"id":"https://openalex.org/C59701697","wikidata":"https://www.wikidata.org/wiki/Q6895959","display_name":"Molecular Inversion Probe","level":5,"score":0.4645084738731384},{"id":"https://openalex.org/C156385826","wikidata":"https://www.wikidata.org/wiki/Q1341059","display_name":"Multiple displacement amplification","level":5,"score":0.46403738856315613},{"id":"https://openalex.org/C95371953","wikidata":"https://www.wikidata.org/wiki/Q591745","display_name":"DNA microarray","level":4,"score":0.46089333295822144},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.4501195549964905},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.3643403649330139},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.3135119080543518},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.28928425908088684},{"id":"https://openalex.org/C49105822","wikidata":"https://www.wikidata.org/wiki/Q176996","display_name":"Polymerase chain reaction","level":3,"score":0.23871585726737976},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17843592166900635},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.14881020784378052},{"id":"https://openalex.org/C78063203","wikidata":"https://www.wikidata.org/wiki/Q3062596","display_name":"DNA extraction","level":4,"score":0.06599152088165283},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003196","descriptor_name":"Computer Graphics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D021141","descriptor_name":"Nucleic Acid Amplification Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1186/1471-2164-14-468","doi":"https://doi.org/10.1186/1471-2164-14-468","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2164-14-468","pdf_url":"https://bmcgenomics.biomedcentral.com/counter/pdf/10.1186/1471-2164-14-468","source":{"id":"https://openalex.org/S28614077","display_name":"BMC Genomics","issn_l":"1471-2164","issn":["1471-2164"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Genomics","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:2713087","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3716764","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,"listed_in":[],"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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3716764","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3716764","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Genomics","raw_type":"Text"},{"id":"pmid:23837845","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23837845","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,"listed_in":[],"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":"BMC genomics","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1186/1471-2164-14-468","doi":"https://doi.org/10.1186/1471-2164-14-468","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2164-14-468","pdf_url":"https://bmcgenomics.biomedcentral.com/counter/pdf/10.1186/1471-2164-14-468","source":{"id":"https://openalex.org/S28614077","display_name":"BMC Genomics","issn_l":"1471-2164","issn":["1471-2164"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Genomics","raw_type":"journal-article"},"sustainable_development_goals":[],"study_designs":[],"awards":[{"id":"https://openalex.org/G1753364391","display_name":"Genotype-Phenotype Relationships in Auditory Neuropathy","funder_award_id":"K23DC008837","funder_id":"https://openalex.org/F4320337352","funder_display_name":"National Institute on Deafness and Other Communication Disorders"},{"id":"https://openalex.org/G457221742","display_name":"Software Tools for Next-Generation Sequencer Data","funder_award_id":"R01HG004719","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G5099546093","display_name":"Wisconsin Center of Excellence in Genomics Science","funder_award_id":"7p50hg004952-05","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G516049965","display_name":null,"funder_award_id":"P50 HG-004952","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G5236019989","display_name":"Robust Software Tools for Variant Identification and Functional Assessment","funder_award_id":"U01HG006513","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G526871968","display_name":"Genomic dissection of a QTL affecting the lipid profile","funder_award_id":"R01HL074168","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G9000269208","display_name":null,"funder_award_id":"P50HG004952","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320310914","display_name":"Medical College of Wisconsin","ror":"https://ror.org/00qqv6244"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F4320337352","display_name":"National Institute on Deafness and Other Communication Disorders","ror":"https://ror.org/04mhx6838"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2126480703.pdf","grobid_xml":"https://content.openalex.org/works/W2126480703.grobid-xml"},"referenced_works_count":26,"referenced_works":["https://openalex.org/W1974078605","https://openalex.org/W1980991473","https://openalex.org/W1985532482","https://openalex.org/W2012016911","https://openalex.org/W2016234006","https://openalex.org/W2030701454","https://openalex.org/W2036210716","https://openalex.org/W2039785774","https://openalex.org/W2052217860","https://openalex.org/W2053734053","https://openalex.org/W2060800769","https://openalex.org/W2061596350","https://openalex.org/W2070082005","https://openalex.org/W2102619694","https://openalex.org/W2104595023","https://openalex.org/W2109389832","https://openalex.org/W2121531763","https://openalex.org/W2128114769","https://openalex.org/W2131088968","https://openalex.org/W2152871663","https://openalex.org/W2157587034","https://openalex.org/W2159829835","https://openalex.org/W2168133698","https://openalex.org/W2171777347","https://openalex.org/W2582743722","https://openalex.org/W2885727518"],"related_works":["https://openalex.org/W2740333682","https://openalex.org/W2053734053","https://openalex.org/W2103811075","https://openalex.org/W2030203770","https://openalex.org/W2052217860","https://openalex.org/W7141098500","https://openalex.org/W2166655021","https://openalex.org/W2306989613","https://openalex.org/W1803809895","https://openalex.org/W2587987600"],"abstract_inverted_index":{"BACKGROUND:":[0],"Next":[1],"generation":[2],"sequencing":[3],"and":[4,61,82,102,112,124,127,172],"advances":[5],"in":[6,25,140],"genomic":[7,101,180],"enrichment":[8],"technologies":[9,33],"have":[10],"enabled":[11],"the":[12,15,26,38,107,122,145,164,167],"discovery":[13,165],"of":[14,18,31,40,55,87,109,147,166,170],"full":[16],"spectrum":[17],"variants":[19],"from":[20,65,71,100],"common":[21,116],"to":[22,117,179],"rare":[23],"alleles":[24],"human":[27],"population.":[28],"The":[29],"application":[30],"such":[32,49],"can":[34,47],"be":[35],"limited":[36,154],"by":[37,58],"amount":[39],"DNA":[41,104,139,162,181],"available.":[42],"Whole":[43],"genome":[44],"amplification":[45],"(WGA)":[46],"overcome":[48],"limitations.":[50],"Here":[51],"we":[52],"investigate":[53],"applicability":[54],"using":[56,137,160],"WGA":[57,103,138,161],"comparing":[59,96,178],"SNP":[60,111],"INDEL":[62,113],"variant":[63,97,110],"calls":[64,98,114],"a":[66,76,83,133,153],"single":[67],"genomic/WGA":[68],"sample":[69,155],"pair":[70],"two":[72],"capture":[73,81,85],"separate":[74],"experiments:":[75],"50":[77],"Mbp":[78,89],"whole":[79],"exome":[80],"custom":[84],"array":[86],"4":[88],"region":[90],"on":[91,152],"chr12.":[92],"RESULTS:":[93],"Our":[94],"results":[95,146],"derived":[99],"show":[105],"that":[106,129,159],"majority":[108,169],"are":[115,150],"both":[118,120],"callsets,":[119],"at":[121],"site":[123],"genotype":[125],"level":[126],"suggest":[128,158],"allele":[130],"bias":[131],"plays":[132],"minimal":[134],"role":[135],"when":[136,177],"re-sequencing":[141],"studies.":[142],"CONCLUSIONS:":[143],"Although":[144],"this":[148],"study":[149],"based":[151],"size,":[156],"they":[157],"allows":[163],"vast":[168],"variants,":[171],"achieves":[173],"high":[174],"concordance":[175],"metrics,":[176],"calls.":[182]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":2}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2016-06-24T00:00:00"}
