Supplementary Figure 7: Autozygosity mapping identifies NEK1 p.Arg261His as a candidate ALS variant.
From: NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
Whole-genome sequencing followed by autozygosity mapping with allowed genetic heterogeneity identified ten runs of homozygosity present in one or more of four SALS patients from an isolated Dutch community (top). These regions contained four variants where at least one of the four patients was homozygous and where MAF was less than 0.01 in the 1000 Genomes Project, the NHLBI Exome Sequencing Project and ExAC (bottom). NEK1 p.Arg261His is the only variant identifiable in all patients and the only variant for which multiple homozygous genotypes were observed.
