Population Genetics Identifies Challenges in Analyzing Rare Variants
نویسندگان
چکیده
منابع مشابه
Population genetics of rare variants and complex diseases.
OBJECTIVES Identifying drivers of complex traits from the noisy signals of genetic variation obtained from high-throughput genome sequencing technologies is a central challenge faced by human geneticists today. We hypothesize that the variants involved in complex diseases are likely to exhibit non-neutral evolutionary signatures. Uncovering the evolutionary history of all variants is therefore ...
متن کاملComprehensive Approach to Analyzing Rare Genetic Variants
Recent findings suggest that rare variants play an important role in both monogenic and common diseases. Due to their rarity, however, it remains unclear how to appropriately analyze the association between such variants and disease. A common approach entails combining rare variants together based on a priori information and analyzing them as a single group. Here one must make some assumptions ...
متن کاملThe UK10K project identifies rare variants in health and disease
Citing this paper Please note that where the full-text provided on King's Research Portal is the Author Accepted Manuscript or Post-Print version this may differ from the final Published version. If citing, it is advised that you check and use the publisher's definitive version for pagination, volume/issue, and date of publication details. And where the final published version is provided on th...
متن کاملThe UK10K project identifies rare variants in health and disease
The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes (high read depth, 80×) of nearly 10,000 individuals from population-based and disease collections. In extensively phenotyped cohorts we characterize over 24 million novel sequence variants, generate a highly accurate im...
متن کاملThe UK10K project identifies rare variants in health and disease
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ژورنال
عنوان ژورنال: Genetic Epidemiology
سال: 2015
ISSN: 0741-0395
DOI: 10.1002/gepi.21881