A pipeline for complete characterization of complex germline rearrangements from long DNA reads.

ABSTRACT:

Background

Many genetic/genomic disorders are caused by genomic rearrangements. Standard methods can often characterize these variations only partly, e.g., copy number changes or breakpoints. It is important to fully understand the order and orientation of rearranged fragments, with precise breakpoints, to know the pathogenicity of the rearrangements.

Methods

We performed whole-genome-coverage nanopore sequencing of long DNA reads from four patients with chromosomal translocations. We identified rearrangements relative to a reference human genome, subtracted rearrangements shared by any of 33 control individuals, and determined the order and orientation of rearranged fragments, with our newly developed analysis pipeline.

Results

We describe the full characterization o

SUBMITTER: Mitsuhashi S 

PROVIDER: S-EPMC7393826 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature