Diseases, Conditions, Syndromes

New tool enables easy, effective disease tracking

A new open source, cloud-based tool called IDseq can rapidly detect, identify and track emerging pathogens such as SARS-CoV-2. It can identify pathogens before there is an available complete genome sequence, and can therefore ...

Genetics

Male Y chromosomes not 'genetic wastelands'

When researchers say they have sequenced the human genome, there is a caveat to this statement: a lot of the human genome is sequenced and assembled, but there are regions that are full of repetitive elements, making them ...

Genetics

How the genomics health revolution is failing ethnic minorities

Statistics Canada recently released its 2016 census data, which depicts a Canada that is more diverse than ever before. Today, nearly a quarter of Canadians belong to a "visible minority" and 1.7 million Canadians are Indigenous.

Obstetrics & gynaecology

Sequencing all 24 human chromosomes uncovers rare disorders

Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities during pregnancy, according to a study by researchers at the National Institutes ...

Genetics

Researchers build SEQSpark to analyze massive genetic data sets

Uncovering rare susceptibility variants that contribute to the causes of complex diseases requires large sample sizes and massively parallel sequencing technologies. These sample sizes, often made up of exome and genome data ...

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