variant classification

The Israeli biotechnology firm hopes that a successful outcome of the study with Centre Léon-Bérard will raise its profile among oncologists.

Detection of pathogenic or likely pathogenic variants implicated in cardiomyopathy declines in individuals with self-reported ancestry from under-studied populations.

Sentieon will integrate its DNAseq and TNseq variant-calling technology into Qiagen's CLC Genomics Workbench and the Qiagen Clinical Insight platform.

The new, open-source GATK4 widens its coverage and compatibility with major cloud platforms while adding machine learning.

The workgroup wanted to address the problem of variability in how bioinformatics pipelines are validated in order to improve the accuracy of NGS tests.

Fabric disclosed partnerships with Rady Children's Institute for Genomic Medicine, the Utah Genome Project, and Genomics England's 100,000 Genomes Project.

Israeli genomic analysis startup Genoox hopes to lower the barrier to entry for next-generation sequencing, making it accessible to non-academic centers.

Despite years of experience of returning genetic test results, clinicians and researchers are still faced with many questions, such as what to do about VUS and secondary findings.

Two speakers at the National Society of Genetic Counselors annual meeting discussed how often genetic variants are reclassified and how that affects patients.

The list is intended to provide ClinVar a level of assurance about the quality of variant classification data submitted by clinical labs.


The London School of Economics' Daniele Fanelli argues at the Proceedings of the National Academy of Sciences that the reproducibility crisis in science isn't as dire as some say.

A team of researchers in Portugal has examined the genomic basis for racing pigeons' athleticism and navigational skills, finding it's likely polygenic.

Wired reports that diagnostic firms continue to seek, post-Theranos, the ability to diagnose diseases from small amounts of blood.

In Science this week: analysis of DNA from ancient North Africans, and more.