Document Type

Article

Publication Date

4-28-2022

Publication Title

Genome Med

Keywords

JGM, Base Sequence, Chromosome Mapping, Genomics, Humans, Sequence Analysis, DNA, Virulence

JAX Source

Genome Med 2022 Apr 28; 14(1):44

Volume

14

Issue

1

First Page

44

Last Page

44

ISSN

1756-994X

PMID

35484572

DOI

https://doi.org/10.1186/s13073-022-01046-6

Abstract

Structural variants (SVs) are implicated in the etiology of Mendelian diseases but have been systematically underascertained owing to sequencing technology limitations. Long-read sequencing enables comprehensive detection of SVs, but approaches for prioritization of candidate SVs are needed. Structural variant Annotation and analysis (SvAnna) assesses all classes of SVs and their intersection with transcripts and regulatory sequences, relating predicted effects on gene function with clinical phenotype data. SvAnna places 87% of deleterious SVs in the top ten ranks. The interpretable prioritizations offered by SvAnna will facilitate the widespread adoption of long-read sequencing in diagnostic genomics. SvAnna is available at https://github.com/TheJacksonLaboratory/SvAnn a .

Comments

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License.

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