broadinstitute / gnomad_local_ancestry

Hail batch pipeline and scripts for local ancestry inference
MIT License
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Investigate RFMix2 strand call mimicking #67

Closed mike-w-wilson closed 3 years ago

mike-w-wilson commented 3 years ago

Marcos S. claims RFMixv2 tends to call strand segments the same ancestry when run on 3-way admixed samples. He believes it falls near the ends of chromosomes or when a small segment is the third ancestry found. Below, the top image, is a karyotype of chr20 from one individual where he made this claim. In the second image, it is not occouring. Screen Shot 2021-07-23 at 4.06.30 PM.pngScreen Shot 2021-07-23 at 4.07.49 PM.png

He suggested mixing two samples haplotypes that we know are different and running it through RFMixv2 to see if we can duplicate the strand mimic.

mike-w-wilson commented 3 years ago

Simulation data karyotypes did not show these double calls.