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Informatics

News on bioinformatics, software, genome analysis, variant classification, and IT in genetics, genomics, and molecular diagnostics.

The Telomere-to-Telomere consortium has already generated a gapless assembly of the human X chromosome and aims to complete all chromosomes over the next two years or so.

Symbolized by its first time exhibiting at HIMSS, Roche Diagnostics is using data to bridge the worlds of imaging, sequencing, diagnostics, drug discovery, and treatment.

The Navify software, which Roche launched today, provides annotation, interpretation, and clinical reporting of next-generation sequencing tests for cancer.

Cambridge Cancer Genomics will contribute AI, liquid biopsy technology, and a TMB sequencing panel to broaden access to cancer immunotherapies in the UK.

The companies will use their respective technologies in a study investigating the associations between ovarian cancer and the gut microbiome.

A new Trump executive order about "free inquiry" on college campuses may threaten $35 billion-worth of federal research funding, reports Ars Technica.

As we enter conference season, Nature News asks why graduate students and postdocs are sometimes forced to choose between paying the rent and paying to attend important meetings.

A new analysis says that a 2018 study claiming to show biparental mtDNA inheritance has several flaws.

In PNAS this week: a genome sequence analysis of Crucihimalaya himalaica, multicellularity and fruiting body development in mushroom-forming fungi, and more.

Mar
28
Sponsored by
Qiagen

The Human Gene Mutation Database (HGMD) is a manually curated, comprehensive collection of disease-causing, germline mutations. Since 1996, a team of experts has manually catalogued over a quarter of a million mutations for the database.  

Apr
09
Sponsored by
Sophia Genetics

This webinar will present the utility of a personalized in silico analytical approach for the routine clinical diagnosis of channelopathies and cardiomyopathies. 

May
07
Sponsored by
Agilent

This webinar will discuss the implementation of an enterprise-wide clinical genomics platform that is shared across 10 hospitals and research organizations in the Australian State of Victoria.