{"id":"https://openalex.org/W2995917874","doi":"https://doi.org/10.1093/bioinformatics/btz942","title":"A haplotype-aware<i>de novo</i>assembly of related individuals using pedigree sequence graph","display_name":"A haplotype-aware<i>de novo</i>assembly of related individuals using pedigree sequence graph","publication_year":2019,"publication_date":"2019-12-18","ids":{"openalex":"https://openalex.org/W2995917874","doi":"https://doi.org/10.1093/bioinformatics/btz942","mag":"2995917874","pmid":"https://pubmed.ncbi.nlm.nih.gov/31860070"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btz942","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btz942","pdf_url":null,"source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7759745","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5060605357","display_name":"Shilpa Garg","orcid":"https://orcid.org/0000-0003-0200-4200"},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210123353","display_name":"Inspire","ror":"https://ror.org/02sy45055","country_code":"CH","type":"company","lineage":["https://openalex.org/I4210123353"]}],"countries":["CH","US"],"is_corresponding":true,"raw_author_name":"Shilpa Garg","raw_affiliation_strings":["Department of Genetics, Harvard Medical School","Wyss Institute for Biologically Inspired Engineering, Harvard University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Harvard Medical School","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Wyss Institute for Biologically Inspired Engineering, Harvard University","institution_ids":["https://openalex.org/I4210123353"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054096370","display_name":"John Aach","orcid":"https://orcid.org/0000-0001-7111-9541"},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John Aach","raw_affiliation_strings":["Department of Genetics, Harvard Medical School"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Harvard Medical School","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100338825","display_name":"Heng Li","orcid":"https://orcid.org/0000-0003-4874-2874"},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Heng Li","raw_affiliation_strings":["Department of Biomedical Informatics, Harvard Medical School , Boston"],"raw_orcid":"https://orcid.org/0000-0003-4874-2874","affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Harvard Medical School , Boston","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065247959","display_name":"Isaac Sebenius","orcid":"https://orcid.org/0000-0001-9927-2150"},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Isaac Sebenius","raw_affiliation_strings":["Department of Molecular and Cellular Biology , Harvard University, Cambridge, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular and Cellular Biology , Harvard University, Cambridge, MA, USA","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082040351","display_name":"Richard Durbin","orcid":"https://orcid.org/0000-0002-9130-1006"},"institutions":[{"id":"https://openalex.org/I241749","display_name":"University of Cambridge","ror":"https://ror.org/013meh722","country_code":"GB","type":"education","lineage":["https://openalex.org/I241749"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Richard Durbin","raw_affiliation_strings":["Department of Genetics, University of Cambridge , Cambridge, UK"],"raw_orcid":"https://orcid.org/0000-0002-9130-1006","affiliations":[{"raw_affiliation_string":"Department of Genetics, University of Cambridge , Cambridge, UK","institution_ids":["https://openalex.org/I241749"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5103076360","display_name":"George M. Church","orcid":"https://orcid.org/0000-0003-3535-2076"},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210123353","display_name":"Inspire","ror":"https://ror.org/02sy45055","country_code":"CH","type":"company","lineage":["https://openalex.org/I4210123353"]}],"countries":["CH","US"],"is_corresponding":true,"raw_author_name":"George Church","raw_affiliation_strings":["Department of Genetics, Harvard Medical School","Wyss Institute for Biologically Inspired Engineering, Harvard University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Harvard Medical School","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Wyss Institute for Biologically Inspired Engineering, Harvard University","institution_ids":["https://openalex.org/I4210123353"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5060605357","https://openalex.org/A5103076360"],"corresponding_institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210123353"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":1.5177,"has_fulltext":false,"cited_by_count":30,"citation_normalized_percentile":{"value":0.83261399,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":99},"biblio":{"volume":"36","issue":"8","first_page":"2385","last_page":"2392"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.7781000137329102,"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"}},"topics":[{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.7781000137329102,"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/T13664","display_name":"Genome Rearrangement Algorithms","score":0.07540000230073929,"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":0.07199999690055847,"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/haplotype","display_name":"Haplotype","score":0.7861470580101013},{"id":"https://openalex.org/keywords/sequence","display_name":"Sequence (biology)","score":0.5987260341644287},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5375520586967468},{"id":"https://openalex.org/keywords/graph","display_name":"Graph","score":0.5326352119445801},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.43556904792785645},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.3961377739906311},{"id":"https://openalex.org/keywords/combinatorics","display_name":"Combinatorics","score":0.36088818311691284},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.3270190358161926},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.23545536398887634},{"id":"https://openalex.org/keywords/theoretical-computer-science","display_name":"Theoretical computer science","score":0.1864863634109497},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.16965007781982422},{"id":"https://openalex.org/keywords/allele","display_name":"Allele","score":0.15660089254379272}],"concepts":[{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.7861470580101013},{"id":"https://openalex.org/C2778112365","wikidata":"https://www.wikidata.org/wiki/Q3511065","display_name":"Sequence (biology)","level":2,"score":0.5987260341644287},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5375520586967468},{"id":"https://openalex.org/C132525143","wikidata":"https://www.wikidata.org/wiki/Q141488","display_name":"Graph","level":2,"score":0.5326352119445801},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.43556904792785645},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3961377739906311},{"id":"https://openalex.org/C114614502","wikidata":"https://www.wikidata.org/wiki/Q76592","display_name":"Combinatorics","level":1,"score":0.36088818311691284},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3270190358161926},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.23545536398887634},{"id":"https://openalex.org/C80444323","wikidata":"https://www.wikidata.org/wiki/Q2878974","display_name":"Theoretical computer science","level":1,"score":0.1864863634109497},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.16965007781982422},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.15660089254379272}],"mesh":[{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","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":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016678","descriptor_name":"Genome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016678","descriptor_name":"Genome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016678","descriptor_name":"Genome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1093/bioinformatics/btz942","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btz942","pdf_url":null,"source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:31860070","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31860070","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":"Bioinformatics (Oxford, England)","raw_type":null},{"id":"pmh:oai:europepmc.org:6687970","is_oa":false,"landing_page_url":"http://europepmc.org/pmc/articles/PMC7759745","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:7759745","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7759745","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,"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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:7759745","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7759745","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,"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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics","raw_type":"Text"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G1002826959","display_name":null,"funder_award_id":"RM1HG008525","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G1318125815","display_name":null,"funder_award_id":"K99 HG010906","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G1352378097","display_name":null,"funder_award_id":"U01HG010971","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G1816012062","display_name":null,"funder_award_id":"RM1 HG008525","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G2525819337","display_name":null,"funder_award_id":"K99HG010906","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G3516633646","display_name":null,"funder_award_id":"R01 HG010040","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G415527994","display_name":null,"funder_award_id":"R01HG010040","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G4966592371","display_name":null,"funder_award_id":"U01 HG010971","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"}],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":25,"referenced_works":["https://openalex.org/W1579534339","https://openalex.org/W1983403167","https://openalex.org/W2011246380","https://openalex.org/W2032033112","https://openalex.org/W2108640362","https://openalex.org/W2115501618","https://openalex.org/W2120902911","https://openalex.org/W2121679244","https://openalex.org/W2179507357","https://openalex.org/W2420821447","https://openalex.org/W2538143681","https://openalex.org/W2606086658","https://openalex.org/W2788099780","https://openalex.org/W2788228074","https://openalex.org/W2808052219","https://openalex.org/W2888300707","https://openalex.org/W2897774129","https://openalex.org/W2950354111","https://openalex.org/W2950682063","https://openalex.org/W2952746707","https://openalex.org/W2952870794","https://openalex.org/W2968499116","https://openalex.org/W2992976869","https://openalex.org/W6733201756","https://openalex.org/W6766887053"],"related_works":["https://openalex.org/W4391375266","https://openalex.org/W3146762847","https://openalex.org/W2398263405","https://openalex.org/W2056886854","https://openalex.org/W2025446304","https://openalex.org/W2166354960","https://openalex.org/W2131321814","https://openalex.org/W1888102361","https://openalex.org/W2171251480","https://openalex.org/W1492100763"],"abstract_inverted_index":{"MOTIVATION:":[0],"Reconstructing":[1],"high-quality":[2,82],"haplotype-resolved":[3],"assemblies":[4],"for":[5],"related":[6,144],"individuals":[7,99],"has":[8],"important":[9],"applications":[10],"in":[11,36,100,106,199],"Mendelian":[12],"diseases":[13],"and":[14,33,64,70,93,136,174,192,214],"population":[15],"genomics.":[16],"Through":[17],"major":[18],"genomics":[19,117],"sequencing":[20,44,109],"efforts":[21],"such":[22],"as":[23,185,187],"the":[24,28,34,116,156],"Personal":[25],"Genome":[26,30,35],"Project,":[27],"Vertebrate":[29],"Project":[31],"(VGP)":[32],"a":[37,41,86,101,112,122,163,200],"Bottle":[38],"project":[39],"(GIAB),":[40],"variety":[42],"of":[43,48,76,90,97,108,115,158,166],"datasets":[45],"from":[46,67,142,177,196,217],"trios":[47],"diploid":[49,95,130],"genomes":[50,96,169],"are":[51,58],"becoming":[52],"available.":[53],"Current":[54],"trio":[55,165,201],"assembly":[56,131],"approaches":[57],"not":[59],"designed":[60],"to":[61,80,129,202],"incorporate":[62],"long-":[63],"short-read":[65],"data":[66,79,135,141,176,191,195],"mother-father-child":[68],"trios,":[69],"therefore":[71],"require":[72,184],"relatively":[73],"high":[74],"coverages":[75],"costly":[77],"long-read":[78,137],"produce":[81],"assemblies.":[83,206,220],"Thus,":[84],"building":[85],"trio-aware":[87],"assembler":[88],"capable":[89],"producing":[91],"accurate":[92,133],"chromosomal-scale":[94,204],"all":[98,143],"pedigree,":[102],"while":[103],"being":[104],"cost-effective":[105],"terms":[107],"costs,":[110],"is":[111],"pressing":[113],"need":[114],"community.":[118],"RESULTS:":[119],"We":[120,154,180],"present":[121],"novel":[123],"pedigree":[124,160],"sequence":[125],"graph":[126],"based":[127],"approach":[128,161],"using":[132],"Illumina":[134,190],"Pacific":[138],"Biosciences":[139],"(PacBio)":[140],"individuals,":[145],"thereby":[146],"generalizing":[147],"our":[148,159],"previous":[149],"work":[150],"on":[151,162],"single":[152],"individuals.":[153],"demonstrate":[155],"effectiveness":[157],"simulated":[164],"pseudo-diploid":[167],"yeast":[168],"with":[170],"different":[171],"heterozygosity":[172],"rates,":[173],"real":[175],"human":[178],"chromosome.":[179],"show":[181,209],"that":[182,210],"we":[183,208,211],"little":[186],"30\u00d7":[188],"coverage":[189],"15\u00d7":[193],"PacBio":[194],"each":[197],"individual":[198],"generate":[203],"phased":[205,219],"Additionally,":[207],"can":[212],"detect":[213],"phase":[215],"variants":[216],"generated":[218],"AVAILABILITY":[221],"AND":[222],"IMPLEMENTATION:":[223],"https://github.com/shilpagarg/WHdenovo.":[224]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":7},{"year":2021,"cited_by_count":10},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1}],"updated_date":"2026-07-26T07:53:14.480251","created_date":"2019-12-26T00:00:00"}
