1 / 3

25 inversion genotyped for AFR phase2 panel

25 inversion genotyped for AFR phase2 panel. 23 inversions were called on phase1 samples (PCR validated) 2 inversions originate from DGVv10 database with good allele-support

faunus
Download Presentation

25 inversion genotyped for AFR phase2 panel

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. 25 inversion genotyped for AFR phase2 panel 23 inversions were called on phase1 samples (PCR validated) 2 inversions originate from DGVv10 database with good allele-support VCF files:-) Inversions.EMBL.delly.AFR.phase2.genotypes.vcf.gz-) Inversions.EMBL.delly.AFR.phase2.genotypes.vcf.gz.tbi VCF files contain information about: -) inversion coordinates (hg19) -) genotypes for 191 AFR phase 2 samples -) log-transformed genotype likelihoods (Li H. et al. Bioinformatics 2011 ) -) genotype confidence (ratio between best and second best genotype likelihoods)

  2. Genotype ratio expresses the confidence for correct genotype assignment chr16:48650835-48651350 (7/5) HET 3.5e+14 (11/2) HET 1.2 (12/0) HOMINV 3,926.7

  3. Example with less noise (likely better breakpoint precision) chr7:40879376-40880477 (0/13) HOMREF 8,191 (7/7) HET 3.8e+21 (10/0) HOMINV 1,022

More Related