Discovery of large genomic inversions using long range information.

ABSTRACT:

Background

Although many algorithms are now available that aim to characterize different classes of structural variation, discovery of balanced rearrangements such as inversions remains an open problem. This is mainly due to the fact that breakpoints of such events typically lie within segmental duplications or common repeats, which reduces the mappability of short reads. The algorithms developed within the 1000 Genomes Project to identify inversions are limited to relatively short inversions, and there are currently no available algorithms to discover large inversions using high throughput sequencing technologies.

Results

Here we propose a novel algorithm, VALOR, to discover large inversions using new sequencing methods that provide long range information such as 10X Genomi

SUBMITTER: Eslami Rasekh M 

PROVIDER: S-EPMC5223412 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature