Extended Data Figure 7: Example of a second polymorphism in-phase which rescues a putative protein-truncating mutation.
From: Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
Short-reads that align to genomic positions 65,339,112 to 65,339,132 on chromosome 1 are displayed for one individual with a putative homozygous pLoF genotype in this region. The SNP at position 65,339,122 from G to T is annotated as a nonsense mutation in the JAK1 gene. However, all three homozygotes of this mutation carried a tandem SNP in the same codon (A to G at 65,339,124) thus resulting in a glutamine and effectively rescuing the protein-truncating mutation.
