Researchers from Illumina, the University Medical Center Utrecht, and elsewhere describe a computational approach for detecting short tandem repeat expansions from short read genome sequence data generated without PCR amplification. The team applied its algorithm, known as ExpansionHunter, to genome sequence data for almost 2,800 control individuals and 3,001 individuals with amyotrophic lateral sclerosis — one of the conditions that can arise from rampant short tandem repeat expansion.

To read the full story....

Register for Free.

Already have a GenomeWeb or 360Dx account?
Login Now.

A new analysis examines the gender gap among paper authors in the sciences and says it may take decades or more to close.

Researchers have uncovered signals of selection that may enable the Bajau people to free five hundreds of feet deep, Reuters reports.

In Science this week: paternally inherited cis-regulatory structural variants in autism, and more.

A new report outlines issues facing the implementation of personalized medicine in the UK, the Independent reports.