Genomic characterization of mutant laboratory mouse strains by exome sequencing and annotation lift-over.

ABSTRACT:

Background

Exome sequencing has become a popular method to evaluate undirected mutagenesis experiments in mice. However, the most suitable mouse strain for the biological model may be relatively distant from the standard mouse reference genome. For pinpointing causative variants, a matching reference with gene annotations is essential, but not always readily available.

Results

We present an approach that allows to use murine Ensembl annotations on alternative mouse strain assemblies. We resolved ENU-induced mutation screening for 8 phenotypic mutant lines generated on C3HeB/FeJ background aligning the sequences against the closely related, but not annotated reference of C3H/HeJ. Variants occurring in all strains were filtered out as specific for the C3HeB/FeJ strain but unre

SUBMITTER: Derdak S 

PROVIDER: S-EPMC4422528 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature