Extended Data Fig. 1: 200×WGS allows detection of mosaic variants down to 1% sensitivity.
From: Autism risk in offspring can be assessed through quantification of male sperm mosaicism
a, Plot showing the fraction of the genome that is covered at a given depth for blood and sperm following WGS with a target coverage of 200 × . b, Plot showing the insert size of the reads for blood and sperm. c, Nanopore long-read technology (average read length 5,349 bp) was able to assign parental haplotype to 601/832 dSNVs in 13 children. Out of these, 501 were paternal, resulting in α~4 as reported previously. d-e, Binomial models for the detection limit of mosaic variants. Plots show the probability of detecting a given variant at a specific allelic fraction (AF) when requiring at least 3 alternate reads at different read-depths (d) or including a magnified inset for AF between 0.05 and 0 at 200 × (e). f, Analysis of the power of detection assuming a minimum requirement of 3 reads at 200 × sequencing. Plot shows the integrated probability of detection for the indicated tiers based on the curve seen in e. g-h, Plot of the fraction of detected variants (g) and the integrated detected fraction for the indicated AF ranges (h) of simulated data using Pysim. Results are from 10,000 variants simulated at 0.25, 0.20, 0.15, 0.10, 0.05, 0.02, and 0.01 AF. HaplotypeCaller was employed to detect variants as for data in Fig. 1.
