Genome scale analysis of pathogenic variants targetable for single base editing.

ABSTRACT:

Background

Single nucleotide variants account for approximately 90% of all known pathogenic variants responsible for human diseases. Recently discovered CRISPR/Cas9 base editors can correct individual nucleotides without cutting DNA and inducing double-stranded breaks. We aimed to find all possible pathogenic variants which can be efficiently targeted by any of the currently described base editors and to present them for further selection and development of targeted therapies.

Methods

ClinVar database (GRCh37_clinvar_20171203) was used to search and select mutations available for current single-base editing systems. We included only pathogenic and likely pathogenic variants for further analysis. For every potentially editable mutation we checked the presence of PAM. If a PAM

SUBMITTER: Lavrov AV 

PROVIDER: S-EPMC7499999 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature