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Article

popSTR2 enables clinical and population-scale genotyping of microsatellites.

Bioinformatics (Oxford, England) - 1 Apr 2020

Kristmundsdottir Snædis, Eggertsson Hannes P, Arnadottir Gudny A, Halldorsson Bjarni V

Abstract excerpt

SUMMARY: popSTR2 is an update and augmentation of our previous work 'popSTR: a population-based microsatellite genotyper'. To make genotyping sensitive to inter-sample differences, we supply a kernel to estimate sample-specific slippage rates. For clinical sequencing purposes, a panel of known pathogenic repeat expansions is provided along with a script that scans and flags for manual inspection markers...

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Identifiers

PMID: 31804671
DOI: 10.1093/bioinformatics/btz913
PMCID: PMC7141861

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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