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Exome sequencing study identifies new genes and variants involved in Crohn’s disease

Written by Miyako Rogers, Science Writer A new study published in Nature uses large-scale exome sequencing to identify new genes […]

Exome sequencing in bipolar disorder identifies new risk gene

A study published in Nature Genetics from a consortium of researchers — the BipEx collaboration — is the largest whole-exome […]

Exome sequencing data from UK Biobank links protein-coding variants to health

A massive effort using exome sequencing data from more than 450,000 UK Biobank participants has revealed rare and common gene […]

Longevity pathways identified in exome analysis of centenarians

Non-human model organisms have provided evidence to suggest that rare protein-coding variants in pathways linked to longevity can guard against […]

Whole-exome sequencing and the potential for obesity treatment

Researchers have demonstrated the potential of large-scale whole-exome sequencing in facilitating therapeutic target discovery to combat obesity. The recent upsurge […]

Exome variant discrepancies between reference genomes

Researchers at the Human Genome Sequencing Center at Baylor College of Medicine have identified genetic variant discrepancies between two human […]

Early results from the UK Biobank Exome Sequencing Consortium

The UK Biobank Exome Sequencing Consortium has released, as preprint in medRxiv, early results from the exome sequencing data generated […]

Clinical utility of exome sequencing in pregnancy loss

A recent study, published in Genetics in Medicine, has explored the clinical utility of exome sequencing for detecting monogenic aetiology […]

Phenotypic refinement critical in exome interpretation

A recent study published in Genetics in Medicine explored the importance of refining phenotypic information for more effective exome data […]

Whole-exome sequencing as a tool to detect inborn errors of metabolism

A study published in Nature Medicine has demonstrated the potential of whole-exome sequencing (WES) in detecting inborn errors of metabolism […]