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• W2020231706 abstract "David Altshuler and colleagues sequenced seven genes for maturity-onset diabetes of the young (MODY), a dominant Mendelian disorder, in 4,003 individuals drawn from three population-based cohorts. They find ~2% of individuals unselected for phenotype carry low frequency variants in one of these MODY genes, predicted as likely to be pathogenic; however most of these individuals remain asymptomatic through middle age. Genome sequencing can identify individuals in the general population who harbor rare coding variants in genes for Mendelian disorders1,2,3,4,5,6,7 and who may consequently have increased disease risk. Previous studies of rare variants in phenotypically extreme individuals display ascertainment bias and may demonstrate inflated effect-size estimates8,9,10,11,12. We sequenced seven genes for maturity-onset diabetes of the young (MODY)13 in well-phenotyped population samples14,15 (n = 4,003). We filtered rare variants according to two prediction criteria for disease-causing mutations: reported previously in MODY or satisfying stringent de novo thresholds (rare, conserved and protein damaging). Approximately 1.5% and 0.5% of randomly selected individuals from the Framingham and Jackson Heart Studies, respectively, carry variants from these two classes. However, the vast majority of carriers remain euglycemic through middle age. Accurate estimates of variant effect sizes from population-based sequencing are needed to avoid falsely predicting a substantial fraction of individuals as being at risk for MODY or other Mendelian diseases." @default.
• W2020231706 created "2016-06-24" @default.
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• W2020231706 date "2013-10-06" @default.
• W2020231706 modified "2023-10-18" @default.
• W2020231706 title "Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes" @default.
• W2020231706 cites W1498321325 @default.
• W2020231706 cites W1511593276 @default.
• W2020231706 cites W1543923901 @default.
• W2020231706 cites W1614679068 @default.
• W2020231706 cites W1617586841 @default.
• W2020231706 cites W1960743603 @default.
• W2020231706 cites W1965032910 @default.
• W2020231706 cites W1967010300 @default.
• W2020231706 cites W1967093093 @default.
• W2020231706 cites W1967616774 @default.
• W2020231706 cites W1969336864 @default.
• W2020231706 cites W1971922029 @default.
• W2020231706 cites W1975535652 @default.
• W2020231706 cites W1976002091 @default.
• W2020231706 cites W1980740976 @default.
• W2020231706 cites W1986472862 @default.
• W2020231706 cites W1990250261 @default.
• W2020231706 cites W1991481988 @default.
• W2020231706 cites W1994272967 @default.
• W2020231706 cites W1996549380 @default.
• W2020231706 cites W2000370642 @default.
• W2020231706 cites W2003305364 @default.
• W2020231706 cites W2010465462 @default.
• W2020231706 cites W2011262822 @default.
• W2020231706 cites W2012109805 @default.
• W2020231706 cites W2016773781 @default.
• W2020231706 cites W2019020805 @default.
• W2020231706 cites W2019380425 @default.
• W2020231706 cites W2028834965 @default.
• W2020231706 cites W2029205619 @default.
• W2020231706 cites W2029584069 @default.
• W2020231706 cites W2030294791 @default.
• W2020231706 cites W2036905533 @default.
• W2020231706 cites W2043793103 @default.
• W2020231706 cites W2050911510 @default.
• W2020231706 cites W2052617539 @default.
• W2020231706 cites W2053192349 @default.
• W2020231706 cites W2059145105 @default.
• W2020231706 cites W2060431349 @default.
• W2020231706 cites W2063909610 @default.
• W2020231706 cites W2071013743 @default.
• W2020231706 cites W2072677493 @default.
• W2020231706 cites W2074393181 @default.
• W2020231706 cites W2083384274 @default.
• W2020231706 cites W2099057503 @default.
• W2020231706 cites W2100526574 @default.
• W2020231706 cites W2100897696 @default.
• W2020231706 cites W2103441770 @default.
• W2020231706 cites W2104570606 @default.
• W2020231706 cites W2107950101 @default.
• W2020231706 cites W2110296791 @default.
• W2020231706 cites W2120262215 @default.
• W2020231706 cites W2120538781 @default.
• W2020231706 cites W2121531763 @default.
• W2020231706 cites W2125890548 @default.
• W2020231706 cites W2136442164 @default.
• W2020231706 cites W2140331829 @default.
• W2020231706 cites W2140560170 @default.
• W2020231706 cites W2141642891 @default.
• W2020231706 cites W2142146386 @default.
• W2020231706 cites W2143602768 @default.

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