Extended Data Fig. 3: Singleton phasing.
From: Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank
(a) Numbers of genotyped parents in duos being homozygous for the major allele (0/0) or heterozygous (0/1) for offspring being heterozygous at the singleton (0/1). Of note, a given variant is assumed to be a singleton here once the genotyped parent is excluded from the dataset to phase. (b) Numbers of parents in each genotype class for trios. (c-d) Numbers of singletons being incorrectly and correctly phased using duos (c) or trios (d) as validation. Binomial p-values were computed using the two sided Exact binomial test as implemented in R.
