Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

Genetic variant calling from DNA sequencing has enabled understanding of germline
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …

Clinical annotations are one of the most popular resources available on the
Pharmacogenomics Knowledgebase (PharmGKB). Each clinical annotation summarizes the …

Advances in omics technologies—such as genomics, transcriptomics, proteomics and
metabolomics—have begun to enable personalized medicine at an extraordinarily detailed …

Since the release of the complete human genome, the priority of human genomic study has
now been shifting towards closing gaps in ethnic diversity. Here, we present a fully phased …

There is great potential for genome sequencing to enhance patient care through improved
diagnostic sensitivity and more precise therapeutic targeting. To maximize this potential …

Personalized medicine is expected to benefit from combining genomic information with
regular monitoring of physiological states by multiple high-throughput methods. Here, we …

Substantial advances have been made in understanding critical molecular and cellular
mechanisms driving tumor initiation, maintenance, and progression in non–small-cell lung …

Importance Whole-genome sequencing (WGS) is increasingly applied in clinical medicine
and is expected to uncover clinically significant findings regardless of sequencing indication …

Whole-genome and-exome resequencing using next-generation sequencers is a powerful
approach for identifying genomic variations that are associated with diseases. However …