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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 […]

New International Consortium for Blood Genetics

A new international consortium of blood genetics has been created by a team at the University of Montreal. Unlike previous […]

Novel statistical test for interpreting pathogenicity of rare variants

Researchers have developed a novel statistical test to interpret the pathogenicity of rare variants and accurately distinguish between benign and […]

Polygenic background modifies penetrance of monogenic variants

Researchers have found that polygenic background can modify penetrance of disease in tier 1 genomic conditions. Monogenic variants Monogenic variants […]

Genetics Unzipped podcast: Sickness and susceptibility – the ancient war between genes and disease

Geneticist Dr Kat Arney takes a look at the ancient war between our genes and the pathogens that infect us, […]

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 […]

Genetic risk for Alzheimer’s progression differs with sex

It is well documented that the genetic risk for Alzheimer’s has a sex bias. Sex bias in Alzheimer’s Carrying a […]

Opinion: Do not rely on your genes to fit into your jeans, genetics-based nutrition is risky business!

Recent times has seen an influx in companies offering direct to consumer genetic tests that offer a wide range of […]

Human brain-derived proteome data helps elucidate a genetic causal pathway for neurological phenotypes

A team of researchers have analysed human proteome data from brain tissue to study whether targeted proteins predictively mediated the […]

Largest genetic contributor to height discovered

A team of researchers have identified the largest genetic contributor to height known to date. The gene was found under […]