Article
A comparison of software for analysis of rare and common short tandem repeat (STR) variation using human genome sequences from clinical and population-based samples
2022-05-28
Abstract excerpt
Short tandem repeat (STR) variation is an often overlooked source of variation between genomes. STRs comprise about 3% of the human genome and are highly polymorphic. Some cause Mendelian disease, and others affect gene expression. Their contribution to common disease is not well-understood, but recent software tools designed to genotype STRs using short read sequencing data are beginning to address this. Here, we...
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Identifiers and source
- Literature Corpus work
- 98f2a814-0d00-5558-8283-6b59f6d8e088
- DOI
- 10.1101/2022.05.25.493473