NanotatoR: a tool for enhanced annotation of genomic structural variants.

ABSTRACT:

Background

Whole genome sequencing is effective at identification of small variants, but because it is based on short reads, assessment of structural variants (SVs) is limited. The advent of Optical Genome Mapping (OGM), which utilizes long fluorescently labeled DNA molecules for de novo genome assembly and SV calling, has allowed for increased sensitivity and specificity in SV detection. However, compared to small variant annotation tools, OGM-based SV annotation software has seen little development, and currently available SV annotation tools do not provide sufficient information for determination of variant pathogenicity.

Results

We developed an R-based package, nanotatoR, which provides comprehensive annotation as a tool for SV classification. nanotatoR uses both externa

SUBMITTER: Bhattacharya S 

PROVIDER: S-EPMC7789800 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature