Background Human genome sequencing has transformed our understanding of genomic
variation and its relevance to health and disease, and is now starting to enter clinical …

Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …

Genotype estimates from short-read sequencing data are typically based on the alignment of
reads to a linear reference, but reads originating from more complex variants (for example …

Haploinsufficiency (HI) is the best characterized mechanism through which dominant
mutations exert their effect and cause disease. Non-haploinsufficiency (NHI) mechanisms …

A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …

Current genome-wide association studies do not yet capture sufficient diversity in
populations and scope of phenotypes. To expand an atlas of genetic associations in non …

Genome-wide association studies have uncovered thousands of common variants
associated with human disease, but the contribution of rare variants to common disease …

Many rare monogenic diseases are known to be caused by deleterious variants in
thousands of genes, however the same variants can also be found in people without the …

Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an
increased risk of autosomal recessive genetic conditions, leading to severe disability or …

Complete and accurate information on genetic mutations and their effects on patients is
essential for proper genetic healthcare. This realization led a group of prominent human …