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Mass General, Harvard to Use Illumina Genotyping Tech in Large ALS Study

NEW YORK (GenomeWeb News) – Illumina today said researchers from Massachusetts General Hospital and Harvard Medical School will use data from its Sentrix HumanHap300 BeadChips and Infinium assay reagents to run a whole-genome association study of amyotrophic lateral sclerosis.
 
The 2,200-sample case/control study is the largest genetic study to date of ALS, according to study co-supervisor Adrian Ivinson, director of Harvard’s Center for Neurodegeneration and Repair.
 
Financial terms of the agreement were not disclosed.

The Scan

Breast Cancer Risk Related to Pathogenic BRCA1 Mutation May Be Modified by Repeats

Several variable number tandem repeats appear to impact breast cancer risk and age at diagnosis in almost 350 individuals carrying a risky Ashkenazi Jewish BRCA1 founder mutation.

Study Explores Animated Digital Message Approach to Communicate Genetic Test Results to Family Members

In the Journal of Genetic Counseling, the approach showed promise in participants presented with a hypothetical scenario related to a familial hereditary breast and ovarian cancer syndrome diagnosis.

Computational Tool Predicts Mammalian Messenger RNA Degradation Rates

A tool called Saluki, trained with mouse and human messenger RNA data, appears to improve mRNA half-life predictions by taking RNA and genetic features into account, a Genome Biology paper reports.

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.