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CHICAGO (GenomeWeb) – Working with genetic researchers in the US and Europe, scientists at Illumina have developed software that identifies repeat expansions in genomic data to assist in early detection of rare diseases such as Huntington's disease, amyotrophic lateral sclerosis, Friedrich's ataxia, and fragile X syndrome. Based on early results, the system, known as ExpansionHunter, has proven to be highly accurate.

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US National Institutes of Health Director Francis Collins says he will avoid male-only speaker panels.

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In Science this week: almond reference genome, and more.

Jun
17
Sponsored by
Illumina

This webinar will provide an overview of polygenic risk scores, which aggregate dozens of genetic variants that have been linked to disease risk in genome-wide association studies (GWAS) into a single score.