Nature

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants

Clinical exome sequencing (ES) has facilitated genetic diagnosis in individuals with a rare genetic disorder by analysis of all protein-coding sequences in a single experiment. However, in 40–60% of ...
Nature

Whole-genome sequencing analysis identifies rare, large-effect noncoding variants and regulatory regions associated with circulating protein levels

Rare genetic variants in noncoding regions of the human genome can cause severe rare disease 1,2, but their role in common, complex traits is still largely unknown. Array-based imputation, genome-wide ...