Functional evaluation of genetic variation in complex human traits
نویسندگان
چکیده
منابع مشابه
Functional evaluation of genetic variation in complex human traits.
Genome-wide association studies and, more recently, next-generation sequencing studies have accelerated the investigation of complex human traits by providing a wealth of association data linking genetic variants to diseases and other phenotypic traits. These data promise to transform our understanding of the molecular pathways underlying complex human traits, but only if functional evaluation ...
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Association studies provide genome-wide information about the genetic basis of complex disease, but medical research has focused primarily on protein-coding variants, owing to the difficulty of interpreting noncoding mutations. This picture has changed with advances in the systematic annotation of functional noncoding elements. Evolutionary conservation, functional genomics, chromatin state, se...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2012
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/dds363