Article

In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.

2018-12-13

Abstract excerpt

Compound heterozygotes occur when different mutations at the same locus on both maternal and paternal chromosomes produce a recessive trait. Here we present the tool VarCount for the quantification of mutations at the individual level. We used VarCount to characterize compound heterozygous coding variants in patients with epileptic encephalopathy and in the 1000 genomes participants. The Epi4k data contains varian...

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Literature Corpus work: e27a5d60-40e6-56bb-934c-ba18ae563f38
DOI: 10.1101/496133

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