A fully-automated method discovers loss of mouse-lethal and human-monogenic disease genes in 58 mammals.

ABSTRACT: Gene losses provide an insightful route for studying the morphological and physiological adaptations of species, but their discovery is challenging. Existing genome annotation tools focus on annotating intact genes and do not attempt to distinguish nonfunctional genes from genes missing annotation due to sequencing and assembly artifacts. Previous attempts to annotate gene losses have required significant manual curation, which hampers their scalability for the ever-increasing deluge of newly sequenced genomes. Using extreme sequence erosion (amino acid deletions and substitutions) and sister species support as an unambiguous signature of loss, we developed an automated approach for detecting high-confidence gene loss events across a species tree. Our approach relies solely on gene annotat

SUBMITTER: Turakhia Y 

PROVIDER: S-EPMC7498332 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature