Mobile Menu

Search Results

Search results for: Variants

Non-canonical Variants: The Dark Horse of Rare Genetic Diseases

Written by Isobel Young, Science Writer By the end of 2018, Genomics England had completed their 100,000 Genome Project (100KGP), […]

A Spotlight On: Variants of uncertain significance – Kimberly Gilmour

Kimberly Gilmour is Director of Laboratory Medicine at Great Ormond Street Hospital for Children. She utilises next generation sequencing and […]

Lupus variants identified with whole-genome sequencing in Chinese patients

A new study has identified key rare variants in systemic lupus erythematosus (SLE) in a Chinese population for the first […]

Genetic Association Study of Mild Covid-19 Reveals Protective Variants

Written by Vered Smith, Science Writer  A paper has been published in Nature Genetics exploring the genetic associations of mild […]

Rapid Nanopore Sequencing Finds Disease-Causing Variants in Under 8 Hours

Written by Charlotte Harrison, science writer  Whole-genome sequencing can identify genetic variants that cause disease, but the time needed for […]

Sepsis-Associated Variants Integrated into Polygenic Risk Score

Written by Vered Smith, Science Writer  Researchers at the University of Michigan have published a study in PLOS ONE identifying […]

Genetic Variants Associated with Severe Covid-19

Written by Vered Smith, Science Writer  Researchers have published a paper revealing genetic variants associated with the development of life-threatening […]

Parkinson’s Disease-associated Variants Operate Through Gene Regulation

Written by Vered Smith, Science Writer  Scientists have demonstrated that genetic variants associated with Parkinson’s disease perform regulatory functions.  Researchers […]

Many pathogenic genetic variants carry low risk of disease

The team behind a new study has found that many pathogenic genetic variants have a low risk of causing disease. […]

High-impact variants have been identified in severe schizophrenia

Researchers have employed an extreme phenotype strategy to focus on the most severely affected individuals with schizophrenia and subsequently identified […]