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[Preprint]. 2024 Oct 29:2024.10.27.620363. [Version 1] doi: 10.1101/2024.10.27.620363

Fig. 2. Phased BAF Analysis in a High-Coverage 1000 Genomes Project Trio.

Fig. 2

a) Classification principles for five categories: P1 (phased to parent 1), P2 (phased to parent 2), MV (Mendelian Violation), ROH (runs of homozygosity), and NI (Non-Informative), explaining the assignment process. b) The average distribution of these categories across chromosomes 1 to 22 in the trio (HG00405, child; HG00404, mother; HG00403, father), with error bars representing the 95% confidence interval. c) The odds ratio for the false discovery rate in regions masked for repeats and segmental duplications compared to unique genomic regions.