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Exome sequencing followed by genotyping suggests SYPL2 as a susceptibility gene for morbid obesity.


ABSTRACT: Recently developed high-throughput sequencing technology shows power to detect low-frequency disease-causing variants by deep sequencing of all known exons. We used exome sequencing to identify variants associated with morbid obesity. DNA from 100 morbidly obese adult subjects and 100 controls were pooled (n=10/pool), subjected to exome capture, and subsequent sequencing. At least 100 million sequencing reads were obtained from each pool. After several filtering steps and comparisons of observed frequencies of variants between obese and non-obese control pools, we systematically selected 144 obesity-enriched non-synonymous, splicing site or 5' upstream single-nucleotide variants for validation. We first genotyped 494 adult subjects with morbid obesity and 496 controls. Five obesity-associa

SUBMITTER: Jiao H 

PROVIDER: S-EPMC4538196 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature