Genetics

Samtools CRAMS in support for improved compression formats

Computer scientists at the Wellcome Trust Sanger Institute have released a major upgrade of Samtools, one of the most popular next-generation sequence analysis tools. The revised Samtools 1.0 enables researchers to easily ...

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 ...

Diseases, Conditions, Syndromes

SARS-CoV-2 mutations: Why the virus might still have some tricks to pull

The pandemic has enabled us to study the details of how evolution happens—in real time. Scientists have generated more than two million genome sequences of the SARS-CoV-2 virus, allowing us to dissect the minutiae of evolutionary ...

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

Easy access to genetic testing

Frederick Sanger, who died recently at the age of 95, won two Nobel prizes in chemistry for his methods for sequencing proteins and DNA. Proteins were of more direct interest to many people because many disease-causing mutations ...

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