Prioritizing sequence variants in conserved non-coding elements in the chicken genome using chCADD.

ABSTRACT: The availability of genomes for many species has advanced our understanding of the non-protein-coding fraction of the genome. Comparative genomics has proven itself to be an invaluable approach for the systematic, genome-wide identification of conserved non-protein-coding elements (CNEs). However, for many non-mammalian model species, including chicken, our capability to interpret the functional importance of variants overlapping CNEs has been limited by current genomic annotations, which rely on a single information type (e.g. conservation). We here studied CNEs in chicken using a combination of population genomics and comparative genomics. To investigate the functional importance of variants found in CNEs we develop a ch(icken) Combined Annotation-Dependent Depletion (chCADD) model, a va

SUBMITTER: Groß C 

PROVIDER: S-EPMC7535126 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature