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ArtikelGenome-Wide Significance Testing of Variation from Single Case Exomes  
Oleh: Wilfert, Amy B. ; Chao, Katherine R. ; Kaushal, Madhurima ; Jain, Sanjay ; Zollner, Sebastian ; Adams, David R. ; Conrad, Donald F.
Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Nature Genetics vol. 48 no. 12 (Dec. 2016), page 1455-1461.
Topik: Genomics; Medical Genetics; Software
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  • Perpustakaan FK
    • Nomor Panggil: N12.K
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Isi artikelStandard techniques from genetic epidemiology are ill-suited to formally assess the significance of variants identified from a single case. We developed a statistical inference framework for identifying unusual functional variation from a single exome or genome, what we refer to as the 'n-of-one' problem. Using this approach we assessed our ability to identify the causal genotypes in over 5 million simulated cases of Mendelian disease, identifying 39% of disease genotypes as the most damaging unit in a typical exome background. We applied our approach to 129 n-of-one families from the Undiagnosed Diseases Program, nominating 60% of 30 disease genes determined to be diagnostic by a standard clinical workup. Our method can currently produce well-calibrated P values when applied to single genomes, can facilitate integration of multiple data types for n-of-one analyses, and, with further work, could become a widely used epidemiological method like linkage analysis or genome-wide association analysis.
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