Motivated by the explosion of molecular data on humans-particularly data associated with
individual patients-and the sense that there are large, as-yet-untapped opportunities to use …

Genomic technologies are reaching the point of being able to detect genetic variation in
patients at high accuracy and reduced cost, offering the promise of fundamentally altering …

Genome-sequencing studies indicate that all humans carry many genetic variants predicted
to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy …

Exomiser is an application that prioritizes genes and variants in next-generation sequencing
(NGS) projects for novel disease-gene discovery or differential diagnostics of Mendelian …

A high-density haplotype map recently enabled a genome-wide association study (GWAS)
in a population of indica subspecies of Chinese rice landraces. Here we extend this …

The availability of a high quality human genome assembly has revolutionized biomedical
research. Genomics has now entered the realm of clinical genetics, with many groups using …

Identifying genomic variation is a crucial step for unraveling the relationship between
genotype and phenotype and can yield important insights into human diseases. Prevailing …

Numerous new disease-gene associations have been identified by whole-exome
sequencing studies in the last few years. However, many cases remain unsolved due to the …

Background Mendelian analysis of disorders of immune regulation can provide insight into
molecular pathways associated with host defense and immune tolerance. Methods We …

Advances in next-generation sequencing (NGS) technologies have rapidly improved
sequencing fidelity and substantially decreased sequencing error rates. However, given that …