{"id":"https://openalex.org/W2883557699","doi":"https://doi.org/10.1093/bioinformatics/bty542","title":"MendelProb: probability and sample size calculations for Mendelian studies of exome and whole genome sequence data","display_name":"MendelProb: probability and sample size calculations for Mendelian studies of exome and whole genome sequence data","publication_year":2018,"publication_date":"2018-07-19","ids":{"openalex":"https://openalex.org/W2883557699","doi":"https://doi.org/10.1093/bioinformatics/bty542","mag":"2883557699","pmid":"https://pubmed.ncbi.nlm.nih.gov/30032240"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/bty542","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/bty542","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/35/3/529/48965497/bioinformatics_35_3_529.pdf","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":"bronze","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/35/3/529/48965497/bioinformatics_35_3_529.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5015578091","display_name":"Zongxiao He","orcid":null},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]},{"id":"https://openalex.org/I4210162370","display_name":"Baylor Genetics","ror":"https://ror.org/05bxjx840","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210162370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Zongxiao He","raw_affiliation_strings":["Department of Molecular and Human Genetics, Baylor College of Medicine, Center for Statistical Genetics, Houston, TX, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular and Human Genetics, Baylor College of Medicine, Center for Statistical Genetics, Houston, TX, USA","institution_ids":["https://openalex.org/I181547552","https://openalex.org/I4210162370"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100364413","display_name":"Lu Wang","orcid":"https://orcid.org/0000-0002-0073-0666"},"institutions":[{"id":"https://openalex.org/I74775410","display_name":"Rice University","ror":"https://ror.org/008zs3103","country_code":"US","type":"education","lineage":["https://openalex.org/I74775410"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lu Wang","raw_affiliation_strings":["Department of Statistics, Rice University, Houston, TX, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Statistics, Rice University, Houston, TX, USA","institution_ids":["https://openalex.org/I74775410"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043021264","display_name":"Andrew T. DeWan","orcid":"https://orcid.org/0000-0002-7679-8704"},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew T DeWan","raw_affiliation_strings":["Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT, USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5085826245","display_name":"Suzanne M. Leal","orcid":"https://orcid.org/0000-0003-1231-8174"},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]},{"id":"https://openalex.org/I4210162370","display_name":"Baylor Genetics","ror":"https://ror.org/05bxjx840","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210162370"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Suzanne M Leal","raw_affiliation_strings":["Department of Molecular and Human Genetics, Baylor College of Medicine, Center for Statistical Genetics, Houston, TX, USA"],"raw_orcid":"https://orcid.org/0000-0003-1231-8174","affiliations":[{"raw_affiliation_string":"Department of Molecular and Human Genetics, Baylor College of Medicine, Center for Statistical Genetics, Houston, TX, USA","institution_ids":["https://openalex.org/I181547552","https://openalex.org/I4210162370"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5085826245"],"corresponding_institution_ids":["https://openalex.org/I181547552","https://openalex.org/I4210162370"],"apc_list":{"value":3989,"currency":"USD","value_usd":3989},"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.06718944,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"35","issue":"3","first_page":"529","last_page":"531"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.4731000065803528,"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":0.4731000065803528,"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":0.3610999882221222,"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.022600000724196434,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/pedigree-chart","display_name":"Pedigree chart","score":0.7510858774185181},{"id":"https://openalex.org/keywords/mendelian-inheritance","display_name":"Mendelian inheritance","score":0.7426574230194092},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.6637861728668213},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.6163995265960693},{"id":"https://openalex.org/keywords/proband","display_name":"Proband","score":0.6152804493904114},{"id":"https://openalex.org/keywords/locus","display_name":"Locus (genetics)","score":0.609551191329956},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.48256269097328186},{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.47198349237442017},{"id":"https://openalex.org/keywords/sample-size-determination","display_name":"Sample size determination","score":0.4657149314880371},{"id":"https://openalex.org/keywords/genetic-linkage","display_name":"Genetic linkage","score":0.45488524436950684},{"id":"https://openalex.org/keywords/statistical-power","display_name":"Statistical power","score":0.43348631262779236},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.4278136193752289},{"id":"https://openalex.org/keywords/in-silico","display_name":"In silico","score":0.41722071170806885},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.39925339818000793},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.18482425808906555},{"id":"https://openalex.org/keywords/statistics","display_name":"Statistics","score":0.12494486570358276},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.10760053992271423},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.10361781716346741}],"concepts":[{"id":"https://openalex.org/C22593422","wikidata":"https://www.wikidata.org/wiki/Q3242583","display_name":"Pedigree chart","level":3,"score":0.7510858774185181},{"id":"https://openalex.org/C175783326","wikidata":"https://www.wikidata.org/wiki/Q185055","display_name":"Mendelian inheritance","level":3,"score":0.7426574230194092},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6637861728668213},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6163995265960693},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.6152804493904114},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.609551191329956},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.48256269097328186},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.47198349237442017},{"id":"https://openalex.org/C129848803","wikidata":"https://www.wikidata.org/wiki/Q2564360","display_name":"Sample size determination","level":2,"score":0.4657149314880371},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.45488524436950684},{"id":"https://openalex.org/C96608239","wikidata":"https://www.wikidata.org/wiki/Q1199823","display_name":"Statistical power","level":2,"score":0.43348631262779236},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.4278136193752289},{"id":"https://openalex.org/C2775905019","wikidata":"https://www.wikidata.org/wiki/Q192572","display_name":"In silico","level":3,"score":0.41722071170806885},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.39925339818000793},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.18482425808906555},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.12494486570358276},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.10760053992271423},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.10361781716346741},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.0}],"mesh":[{"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":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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":"D011336","descriptor_name":"Probability","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011336","descriptor_name":"Probability","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011336","descriptor_name":"Probability","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":"D018401","descriptor_name":"Sample Size","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018401","descriptor_name":"Sample Size","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018401","descriptor_name":"Sample Size","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":"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:10.1093/bioinformatics/bty542","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/bty542","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/35/3/529/48965497/bioinformatics_35_3_529.pdf","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:30032240","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30032240","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":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:6397596","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6397596","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":"doi:10.1093/bioinformatics/bty542","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/bty542","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/35/3/529/48965497/bioinformatics_35_3_529.pdf","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"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G2744641623","display_name":null,"funder_award_id":"R01 DC003594","funder_id":"https://openalex.org/F4320337352","funder_display_name":"National Institute on Deafness and Other Communication Disorders"},{"id":"https://openalex.org/G3007107489","display_name":"Computational tools for sequence-based large-scale epidemiology studies","funder_award_id":"7r01hg008972-04","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G3466956484","display_name":null,"funder_award_id":"UM1 HG006493","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G3715529269","display_name":"Family-based methods to analyze sequence data to elucidate AD etiology","funder_award_id":"7rf1ag058131-02","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G4162037897","display_name":"Localization of Nonsyndromic Hearing Impairment Genes","funder_award_id":"5r01dc011651-11","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G4265006484","display_name":"Identification of Autosomal Recessive Nonsyndromic Hearing Impairment Genes","funder_award_id":"5r01dc003594-22","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G44411481","display_name":null,"funder_award_id":"R01 HG008972","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G4662282203","display_name":null,"funder_award_id":"R01DC011651","funder_id":"https://openalex.org/F4320337352","funder_display_name":"National Institute on Deafness and Other Communication Disorders"},{"id":"https://openalex.org/G8286803078","display_name":"UW Center for Mendelian Genomics","funder_award_id":"5um1hg006493-08","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G8644082719","display_name":null,"funder_award_id":"RF1 AG058131","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337337","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11"},{"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/W2883557699.pdf","grobid_xml":"https://content.openalex.org/works/W2883557699.grobid-xml"},"referenced_works_count":6,"referenced_works":["https://openalex.org/W1548995919","https://openalex.org/W1976741643","https://openalex.org/W2004798376","https://openalex.org/W2051978340","https://openalex.org/W2293733321","https://openalex.org/W7074078146"],"related_works":["https://openalex.org/W2057739827","https://openalex.org/W1561406796","https://openalex.org/W2140442125","https://openalex.org/W1964114439","https://openalex.org/W1527972786","https://openalex.org/W2541503003","https://openalex.org/W69590109","https://openalex.org/W2883557699","https://openalex.org/W2097226787","https://openalex.org/W2752572145"],"abstract_inverted_index":{"Motivation:":[0],"For":[1,51],"the":[2,18,36,48,81,101,106,120,152,166,173,199,215,234,267,278,295],"design":[3],"of":[4,20,31,38,78,91,111,127,154,159,175,204,217,229,280,297,305],"genetic":[5],"studies,":[6,139],"it":[7,28],"is":[8,29,68,98,243,254],"necessary":[9,255],"to":[10,34,55,221,224,246,256,276,292,299,301],"perform":[11],"power":[12,19],"calculations.":[13],"Although":[14],"for":[15,23,208],"Mendelian":[16,240],"traits":[17],"detecting":[21,155,176],"linkage":[22,196],"pedigree(s)":[24],"can":[25,61,140,150,170,194,213],"be":[26,62,84,222],"determined,":[27],"also":[30,171,293],"great":[32],"interest":[33],"determine":[35,151,214,277],"probability":[37,60,90,153,174,211,279],"identifying":[39,92,185],"multiple":[40,112,258,282,303],"pedigrees":[41],"or":[42,77,96,115,161,260],"unrelated":[43],"cases":[44,97,116,162,261,285],"with":[45,117,163,178,231,262,286],"variants":[46,118,164,179,232,265,287,306],"in":[47,86,119,133,142,146,165,180,188,250,266],"same":[49,121,167,235,268],"gene.":[50,168,236,269,309],"many":[52],"diseases,":[53],"due":[54],"extreme":[56],"locus":[57],"heterogeneity":[58],"this":[59],"small.":[63],"If":[64],"only":[65],"one":[66,191],"family":[67,192,242],"observed":[69],"segregating":[70],"a":[71,144,156,186,209,226,248,289,308],"variant":[72,187],"classified":[73],"as":[74,123,125],"likely":[75],"pathogenic":[76,264],"unknown":[79],"significance,":[80],"gene":[82,122,145,249,290],"cannot":[83],"implicated":[85],"disease":[87,94,103,113,147,241,251],"etiology.":[88,148,252],"The":[89,109],"several":[93],"families":[95,114,160,202,259,283],"dependent":[99],"on":[100],"gene-specific":[102],"prevalence":[104],"and":[105,137,197,284,291,311],"sample":[107],"size.":[108,206],"observation":[110],"well":[124],"evidence":[126],"pathogenicity":[128],"from":[129],"other":[130],"sources,":[131],"e.g.":[132,184],"silico":[134],"prediction,":[135],"expression":[136],"functional":[138],"aid":[141],"implicating":[143],"MendelProb":[149,212],"minimum":[157,227],"number":[158,216,228],"It":[169,253],"calculate":[172],"genes":[177],"different":[181],"data":[182],"types,":[183],"at":[189],"least":[190],"that":[193],"establish":[195,294],"more":[198],"two":[200],"additional":[201],"regardless":[203],"their":[205],"Additionally,":[207],"specified":[210],"probands":[218,298],"which":[219],"need":[220],"screened":[223],"detect":[225,302],"individuals":[230],"within":[233,288,307],"Results:":[237],"A":[238],"single":[239],"not":[244],"sufficient":[245],"implicate":[247],"observe":[257],"potentially":[263],"MendelProb,":[270],"an":[271],"R":[272],"library,":[273],"was":[274],"developed":[275],"observing":[281],"numbers":[296],"screen":[300],"observations":[304],"Availability":[310],"implementation:":[312],"https://github.com/statgenetics/mendelprob.":[313]},"counts_by_year":[],"updated_date":"2026-08-21T09:56:20.448147","created_date":"2025-10-10T00:00:00"}