{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ashley EA"],"funding":["Howard Hughes Medical Institute","NHLBI NIH HHS","NHGRI NIH HHS","NLM NIH HHS","NIH HHS","NIGMS NIH HHS"],"pagination":["1525-35"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC2937184"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["375(9725)"],"pubmed_abstract":["<h4>Background</h4>The cost of genomic information has fallen steeply, but the clinical translation of genetic risk estimates remains unclear. We aimed to undertake an integrated analysis of a complete human genome in a clinical context.<h4>Methods</h4>We assessed a patient with a family history of vascular disease and early sudden death. Clinical assessment included analysis of this patient's full genome sequence, risk prediction for coronary artery disease, screening for causes of sudden cardiac death, and genetic counselling. Genetic analysis included the development of novel methods for the integration of whole genome and clinical risk. Disease and risk analysis focused on prediction of genetic risk of variants associated with mendelian disease, recognised drug responses, and pathogeni"],"journal":["Lancet (London, England)"],"pubmed_title":["Clinical assessment incorporating a personal genome."],"pmcid":["PMC2937184"],"funding_grant_id":["GM61374","R24 GM061374","R01 GM079719","LM007033","LM009719","T32 HL094274","K08 HL083914","GM079719","F32HL097462","U01 GM061374","T15 LM007033","R01 LM009719","HG003389","DP2 OD006511","P50 HG003389","F32 HL097462"],"pubmed_authors":["Pushkarev D","Thorn CF","Woon M","Altman RB","Dudley JT","Dewey FE","Hebert JM","Rosenbaum AM","Pavlovic A","Zaranek AW","Hodges LM","Ashley EA","Morgan AA","Church GM","Sangkuhl K","Gong L","Sagreiya H","Chen R","Knowles JW","Wheeler MT","Klein TE","Chou MF","Neff NF","Berlin DS","Greely HT","Ormond KE","Whaley R","Quake SR","Thakuria JV","Hudgins L","Butte AJ"],"additional_accession":[]},"is_claimable":false,"name":"Clinical assessment incorporating a personal genome.","description":"<h4>Background</h4>The cost of genomic information has fallen steeply, but the clinical translation of genetic risk estimates remains unclear. We aimed to undertake an integrated analysis of a complete human genome in a clinical context.<h4>Methods</h4>We assessed a patient with a family history of vascular disease and early sudden death. Clinical assessment included analysis of this patient's full genome sequence, risk prediction for coronary artery disease, screening for causes of sudden cardiac death, and genetic counselling. Genetic analysis included the development of novel methods for the integration of whole genome and clinical risk. Disease and risk analysis focused on prediction of genetic risk of variants associated with mendelian disease, recognised drug responses, and pathogeni","dates":{"release":"2010-01-01T00:00:00Z","publication":"2010 May","modification":"2026-04-29T07:24:18.059Z","creation":"2019-03-27T00:33:58Z"},"accession":"S-EPMC2937184","cross_references":{"pubmed":["20435227"],"doi":["10.1016/S0140-6736(10)60452-7","10.1016/s0140-6736(10)60452-7"]}}