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. Author manuscript; available in PMC: 2016 Aug 15.
Published in final edited form as: Science. 2016 Mar 3;352(6284):474–477. doi: 10.1126/science.aac8624

Fig. 1. Discovery and annotation of rhLOF variants.

Fig. 1

(A) Autozygous segment numbers and length for Pakistani heritage subjects in the UK, and 1000 Genomes project European (CEPH Utah residents with ancestry from northern and western Europe; CEU) individuals. (B) Autozygosity and rhLOF in 3,222 individuals. Count of number of individuals (left Y axis, blue columns) binned by fraction of autozygous genome (X axis, showing values from 0.00 to 0.12), with mean number of rhLOF genotypes per individual (right Y axis, orange circles). (C) Distribution of LOF variants by allele frequency, heterozygous or homozygous genotype, predicted protein consequence, and whether predicted for a full or partial set of GENCODE Basic transcripts for the gene.