Business Wire

Fabric Genomics Announces AI-based ACMG Classification Solution for Genetic Testing with Hereditary Panels

SEATTLE--(BUSINESS WIRE)--Fabric Genomics will launch a new solution this week for variant interpretation and clinical reporting, allowing clinical laboratories to dramatically accelerate turnaround ...
technologynetworks

Omicia Implements ACMG Variant Scoring and Classification Guidelines

Omicia Inc. will launch its new ACMG-scoring module for the Opal Clinical™ interpretation and reporting software platform at the ACMG Annual Clinical Genetics Meeting in Tampa, March 8-12th. This ...
Labroots

Automated Variant Classification in QIAGEN Clinical Insight Shows Near Perfect Concordance with ClinVar Expert Panel Assessments

As the compendium of putatively disease causing variants expands, gathering the most current and accurate information is critical to computing variant classifications. The QIAGEN knowledgebase ...
ALZFORUM

Is This Mutation Pathogenic? Alzforum Updates System for Making This Call

The Alzforum Mutations database has upped its game. This repository includes rap sheets on more than 500 variants in the three autosomal-dominant Alzheimer’s disease genes amyloid precursor protein ...
Labroots

Panel Presentation: Overcoming Challenges of Copy Number Variant Interpretation with QCI Interpret and the ACMG Guidelines for CNVs

Copy number variant (CNV) analysis has been part of clinical diagnostics for almost two decades. With the evolution of genomic technologies for CNV detection, we have learned that CNVs can range in ...