Despite rapid advances in genome and exome sequencing, many individuals with rare diseases remain undiagnosed. In a ...

Exome sequencing (ES) is commonly used to diagnose Mendelian disorders, which occur when pathogenic variant(s) in a gene are ...

With information from 126,216 human exomes and 15,136 whole human genomes ... has demonstrated “the benefits of looking at whole-genome data in addition to exome-sequencing data,” MacArthur said, ...

In Morocco, whole exome sequencing (WES) is now enabling faster ... The process involves analyzing more than 20,000 human genes in a single step, using a sample of saliva, blood, or any other ...

Childhood cancer survivors with mutations in certain cancer-risk genes have a higher risk of developing additional neoplasms later in life, according to research presented at the American Association ...

The human genome comprises both our protein-coding ... genetic variants in protein-coding genes in the whole-exome sequencing data. These are genetic variants that are predicted to prematurely ...

The nodal body has accredited HaystackAnalytics’ human genomics tests under whole exome sequencing (WES) and pharmacogenomics ...