Article

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

2018-07-05

Abstract excerpt

The influence of genetic background on driver mutations is well established; however, the mechanisms by which the background interacts with Mendelian loci remains unclear. We performed a systematic secondary-variant burden analysis of two independent Bardet-Biedl syndrome (BBS) cohorts with known recessive biallelic pathogenic mutations in one of 17 BBS genes for each individual. We observed a significant enrichme...

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Literature Corpus work: 39b822f6-9d18-5245-84ca-c4a7155ae827
DOI: 10.1101/362707

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