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This subject has a complex phenotype including skeletal and renal dysplasia, immune deficiencies, growth failure, retinal degeneration and ovarian insufficiency. Eighteen non\u2010synonymous, rare homozygous variants were identified on chromosome 2. Additionally, five genes with compound heterozygous mutations were detected on other chromosomes that could lead to a disease phenotype independent of the uniparental disomy found in this case. Several candidate genes with potential connection to the phenotype are described but none are definitively proven to be causal. This study highlights the potential for detection of a large number of candidate genes using whole exome sequencing complicating interpretation in both the research and clinical settings. Forums must be created for publication and sharing of detailed phenotypic and genotypic reports to facilitate further biological discoveries and clinical counseling.<\/jats:p>","DOI":"10.1111\/cge.12064","type":"journal-article","created":{"date-parts":[[2012,11,21]],"date-time":"2012-11-21T07:26:11Z","timestamp":1353482771000},"page":"213-222","source":"Crossref","is-referenced-by-count":31,"title":["Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype"],"prefix":"10.1111","volume":"84","author":[{"given":"H","family":"Carmichael","sequence":"first","affiliation":[{"name":"Harvard Medical School  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Boston Children's Hospital  Boston MA USA"},{"name":"Department of Pathology Harvard Medical School  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"TT","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Division of Endocrinology"},{"name":"Center for Basic and Translational Obesity Research Boston Children's Hospital  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JN","family":"Hirschhorn","sequence":"additional","affiliation":[{"name":"Division of Endocrinology"},{"name":"Center for Basic and Translational Obesity Research Boston Children's Hospital  Boston MA USA"},{"name":"Program in Medical and Population Genetics Broad Institute  Boston MA USA"},{"name":"Department of Genetics Harvard Medical School  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Dauber","sequence":"additional","affiliation":[{"name":"Division of Endocrinology"},{"name":"Program in Medical and Population Genetics Broad Institute  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,12,20]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3031"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.9.081307.164207"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100819"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_2_7_8_1","doi-asserted-by":"crossref","unstructured":"1000 Genomes Project Consortium. 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