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Article

Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes.

American journal of human genetics - 2 Nov 2017

Tang Haibao, Kirkness Ewen F, Lippert Christoph, Biggs William H, Fabani Martin, Guzman Ernesto, Ramakrishnan Smriti, Lavrenko Victor, Kakaradov Boyko, Hou Claire, Hicks Barry, Heckerman David, Och Franz J, Caskey C Thomas, Venter J Craig, Telenti Amalio

Abstract excerpt

Short tandem repeats (STRs) are hyper-mutable sequences in the human genome. They are often used in forensics and population genetics and are also the underlying cause of many genetic diseases. There are challenges associated with accurately determining the length polymorphism of STR loci in the genome by next-generation sequencing (NGS). In particular, accurate detection of pathological STR expansion is limited...

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Identifiers

PMID: 29100084
DOI: 10.1016/j.ajhg.2017.09.013
PMCID: PMC5673627

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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