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Illumina Infinium Global Diversity Array

Illumina has launched the Infinium Global Diversity Array, the commercial version of the array designed for use in the National Institutes of Health All of Us research program. The array features about 1.9 million variants, including imputation-optimized tag SNPs and up-to-date clinical research content from public databases such as ClinVar, the National Human Genome Research Institute-EBI database, and Pharmacogenomics Knowledgebase (PharmGKB). The array has broad utility for a variety of large-scale screening and association studies, with content relevant for polygenic risk scoring, common-disease association studies, and inherited risk screening, Illumina said. In addition, the array offers extremely high genomic coverage and imputation performance across 26 diverse populations. It comes in an eight-sample format chip that has room to add up to 175,000 custom beadtypes, the company said.

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.