In:
Bioinformatics, Oxford University Press (OUP), Vol. 36, No. 7 ( 2020-04-01), p. 2269-2271
Kurzfassung:
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 indicative of a pathogenic expansion. Like its predecessor, popSTR2 allows for joint genotyping of samples at a population scale. We now provide a binning method that makes the microsatellite genotypes more amenable to analysis within standard association pipelines and can increase association power. Availability and implementation https://github.com/DecodeGenetics/popSTR. Supplementary information Supplementary data are available at Bioinformatics online.
Materialart:
Online-Ressource
ISSN:
1367-4803
,
1367-4811
DOI:
10.1093/bioinformatics/btz913
Sprache:
Englisch
Verlag:
Oxford University Press (OUP)
Publikationsdatum:
2020
ZDB Id:
1468345-3
SSG:
12
