نتایج جستجو برای: rare population
تعداد نتایج: 918550 فیلتر نتایج به سال:
background : this study evaluated the role of family history of cancer and gynecologic factors in relation to the etiology of ovarian cancer in a low socioeconomic population in iran. methods : from 2007-2009 we conducted a screening program on women with insurance coverage provided by the imam khomeini relief foundation. a total of 26788 women participated in this study of whom 76 cases had ov...
In recent years, a myriad of new statistical methods have been proposed for detecting associations of rare single-nucleotide variants (SNVs) with common diseases. These methods can be generally classified as 'collapsing' or 'haplotyping' based. The former is the predominant class, composed of most of the rare variant association methods proposed to date. However, recent works have suggested tha...
We consider control of reaction and population systems by deterministically imposed transitions between the states with different numbers of particles or individuals. Even where the imposed transitions are significantly less frequent than spontaneous transitions, they can exponentially strongly modify the rates of rare events, including switching between metastable states or population extincti...
Rare genetic variants contribute to complex disease risk; however, the abundance of rare variants in human populations remains unknown. We explored this spectrum of variation by sequencing 202 genes encoding drug targets in 14,002 individuals. We find rare variants are abundant (1 every 17 bases) and geographically localized, so that even with large sample sizes, rare variant catalogs will be l...
As a first step toward understanding how rare variants contribute to risk for complex diseases, we sequenced 15,585 human protein-coding genes to an average median depth of 111× in 2440 individuals of European (n = 1351) and African (n = 1088) ancestry. We identified over 500,000 single-nucleotide variants (SNVs), the majority of which were rare (86% with a minor allele frequency less than 0.5%...
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