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ACMG

This report contains a quantitative, evidence-based scoring framework to help guide the evaluation of constitutional CNVs across clinical labs.

The genetic disease risk test, which covers 59 genes endorsed by ACMG, is offered through the Helix marketplace and includes genetic counseling services.

At the ACMG meeting, a Children's Hospital of Philadelphia researcher described finding relatively high rates of hereditary cancer variants in tumor sequence data.

Research presented at ACMG by Invitae suggests that clinically actionable variants in cancer patients are missed by germline testing that is not done with expanded panels.

A NorthShore University HealthSystem and Color pilot picked up pathogenic variants in nearly 9 percent of unselected individuals with a hereditary cancer gene test.

As of January the project had returned 290 positive results for CDC Tier 1 conditions from 23,500 participants who had undergone exome sequencing.

In 125,000 de-identified Invitae customers with and without a personal or family history of cancer, 23andMe's DTC test would have missed almost 90 percent of BRCA mutations.

Researchers classified 64 hereditary cancer gene variants with RNA genetic test data, investigating related management changes and potential impacts in other DNA test recipients.

A study of 10 commercial labs offering NIPT in the US found that none followed all recommendations for reporting results and informing patients and providers.

A re-analysis of genomic tests for 309 children with epilepsy altered diagnoses for more than a third of patients with a previously reported genetic variant.

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GenomeWeb reports that Veritas Genetics is suspending its US operations.

A Brazilian-led team of researchers reports it has generated a sugarcane genome assembly that encompasses more than 99 percent of its genome.

Certain plasma proteins could be used to gauge a person's age and whether they are aging well, according to HealthDay News.

In Science this week: approach to measure microRNA targeting efficiency, strategy to conduct high-throughput chemical screens at single-cell resolution, and more.