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WES uncovers mutations for rare paediatric diseases

Using whole-exome sequencing (WES), researchers have identified underlying variants in children with rare genetic paediatric diseases. Rare genetic paediatric diseases […]

Updates on the UK Biobank for 2021 and Beyond – by Mark Effingham

Mark Effingham (Deputy CEO, UK Biobank) joined us at The Festival of Genomics and Biodata 2021 to give us an […]

Neuritogenesis genes confer risk for cerebral palsy

Researchers using whole-exome sequencing have identified that mutations that disrupt neuritogenesis may confer risk for cerebral palsy. Cerebral palsy Cerebral […]

Genetic modifiers impact long-term survival in sickle cell anaemia

A study published in Clinical and Translational Medicine, has assessed whole-exome sequencing data from sickle cell anaemia patients to identify […]

Underdiagnosis of monogenic heart and vascular diseases

Through performing whole-exome sequencing (WES), researchers have found that diagnoses for monogenic cardiovascular diseases (MCVDs) may have previously been missed. […]

Rare TLR7 variants implicated in COVID-19 severity

A study has found that rare genetic alterations in the TLR7 gene may have predisposed two sets of brothers who […]

World of Genomics: Portugal

Portugal is the next stop in our World of Genomics tour. The country has a beautiful landscape, from the low-lying […]

World of Genomics: South Korea

Original article written by Miyako Rogers, August 2022. Updated by Aleisha Collins, November 2023. Famous for kimchi, K-pop and Samsung, […]

Cancer cell competition sheds light on drug resistant lung cancers

A new study has demonstrated competitive exclusion in gefitinib resistant and sensitive ancestor lung cancers, providing a better understanding of […]

Cancer Genomics: From Diagnosis to Treatment

Introduction The first publication of cancer genome sequencing was in 2006, whereby more than 13,000 genes involved in breast and […]