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Search results for: Whole-exome sequencing

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 […]

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 […]

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 […]

Rate of somatic mutations inversely correlates with lifespan

Somatic mutations are implicated in important life processes such as cancer and ageing, yet they still are not well understood. […]

Actionable metastatic cancer genomes remain stable over time

A new study, published in Nature Medicine, has found that driver mutations in metastatic cancer genomes remain stable over time. […]

Sample Preparation for NGS – A Comprehensive Guide

Introduction Sample preparation is the process of getting DNA ready for Next Generation Sequencing (NGS). This requires a few steps… […]