News Medical

New genomic method enables multiple people with rare conditions to receive diagnoses

A new genomic method has enabled multiple people with rare conditions to receive diagnoses that were previously unattainable by identifying complex structural genetic changes that are often missed by ...
GEN

Platinum Pedigree Benchmark Boosts AI Accuracy in Genomic Variant Detection

Recent advances in genome sequencing have improved all aspects of uncovering the human genome. One of the unlocked areas includes variant calling, or identifying and cataloging genetic variations, ...

Bionano Announces Publication from Sanford Burnham Prebys Medical Discovery Institute Describing use of OGM to Detect Genomic Alterations Introduced by Gene Editing Technologies

OGM was selected as a genome-wide, unbiased method to detect large genomic rearrangements and structural variants (SVs) with sensitivity to variant allele fractions (VAFs) as low as 5% to analyze ...
Business Wire

Phase Genomics Advances Breakthrough Cytogenomics with the Element AVITI System for Acute Myeloid Leukemia

SEATTLE--(BUSINESS WIRE)--Phase Genomics, Inc., a global innovator for industry-leading genomic solutions, today announced the presentation of new data from the proximity ligation sequencing-based ...