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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 […]

BRCA2 c.9227G>T variant found to be pathogenic

Recent analysis published in Scientific Reports has concluded that c.9227G>T is a BRCA2 pathogenic variant. Variants of uncertain significance The […]

Digestive tract organs: a pathogenic route for SARS-CoV-2 infection

A recent article published in Cell Death Discovery has explored digestive symptoms of COVID-19 and the potentially pathogenic route of […]

Genomics week in brief: Week ending 17th October

Another week of interesting and ground-breaking research, all brought to you in one place. Top stories from the past week […]

Genomics week in brief: Week ending 10th October

Bringing you another quick round-up of the top Genomics stories and news from the past week! Top stories from the […]

Genomic Epidemiology: The Modern-day Hunt for Malicious Microbes

In this new age of genomic epidemiology, so-called “Microbe Hunters” are combining whole genome sequencing technology with epidemiological data. This […]

Indigenous Genomic Data Needed for Equitable Expanded Carrier Screening:

Pre-conception Expanded Carrier Screening is a technology that uses whole genome sequencing to screen prospective parents as potential carriers of […]

Alexander Fleming’s original Penicillium sequenced

Researchers from Imperial College London, CABI and the University of Oxford, have sequenced the genome of Fleming’s original Penicillium strain […]

Molecular insight into the cellular immune landscape of psoriatic arthritis

A single-cell sequencing analysis has revealed clonal expansion of pro-inflammatory synovial CD8 T cells in psoriatic arthritis, providing further insight […]

Just one base at a time

The advancements in base editing, a new genome editing approach, have generated a lot of excitement amongst scientists in recent […]