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Largest Middle East GWAS reveals clinically relevant variants

A recent GWAS analysis in the Middle Eastern Qatari population has identified genetic associations in 45 clinically relevant traits. GWAS […]

Differential gene expression analysis reveals new genetic variants implicated in oral cancer

A study published in Scientific Reports, has identified six significant oral cancer associated genes through differential analysis. Oral cancer Oral […]

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 […]

Genetic variants linked to male breast cancer found

A recent study published in the Journal of the National Cancer Institute has discovered three genetic variants linked to an […]

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 […]

Variants in ACE2 and TMPRSS2 may explain genetic susceptibility towards COVID-19

The current COVID-19 pandemic has revealed that increased age and the presence of co-existing health conditions, such as cancer, cardiovascular, […]

Studies identify novel genetic variants for heart disease using new method

Heart disease is one of the leading causes of death globally. Two of the most common forms of heart disease […]

WGS unveils rare structural variants associated with schizophrenia

The genetic basis for schizophrenia has long been studied since the first major study was released over 70 years ago, […]

FDA releases list of evidence-based pharmacogenetic variants

Pharmacogenetics (PGx) is the study of how an individual’s genetic makeup affects their drug response and metabolism. An understanding of PGx could help clinicians make prescribing decisions and has the potential to be implemented in routine care worldwide. PGx has understandably been gaining traction and support, with pharmacogenomic elements being implemented into many international Genomic studies.