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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 […]

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 […]

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. […]

Phenotypic refinement critical in exome interpretation

A recent study published in Genetics in Medicine explored the importance of refining phenotypic information for more effective exome data […]

Long-term antibiotic use and risks to mental health

Researchers at Xi’an Jiaotong University, China, have explored the role of long-term antibiotic use in early life and risk to […]

Purifying selection in T cells

A recent publication in The New England Journal of Medicine has reported observations of reduced heteroplasmy in T cells – […]