Publikationsdatum:
2019-12-05
Beschreibung:
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 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.
Print ISSN:
1367-4803
Digitale ISSN:
1460-2059
Thema:
Biologie
,
Informatik
,
Medizin
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