Journal
BIOINFORMATICS
Volume 35, Issue 22, Pages 4754-4756Publisher
OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btz431
Keywords
-
Categories
Funding
- Medical Research Council [MR/S006753/1] Funding Source: Medline
- MRC [MR/S006753/1] Funding Source: UKRI
Ask authors/readers for more resources
The Summary: We describe a novel computational method for genotyping repeats using sequence graphs. This method addresses the long-standing need to accurately genotype medically important loci containing repeats adjacent to other variants or imperfect DNA repeats such as polyalanine repeats. Here we introduce a new version of our repeat genotyping software, ExpansionHunter, that uses this method to perform targeted genotyping of a broad class of such loci.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available
Share Paper
