Informatics

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

PyxisMap, unveiled at the recent ISMB conference, might soon be able to remove the human element from finding causal variants for rare diseases.

The firm has ongoing collaborations to use metagenomic sequencing in water treatment facilities and aims to move into the microbiome testing space.

The company is using its informatics services business to inform internal diagnostic research and development efforts.

Using the method, the researchers predicted the effects of over 140 million mutations in different tissues and identified mutations possibly associated with increased risk of several immune diseases.

Research presented at the Intelligent Systems for Molecular Biology conference shows promise in uncovering more SNP-phenotype links in GWAS.

Human Longevity alleges that Craig Venter stole trade secrets in a lawsuit filed against the J. Craig Venter Institute.

A new paper critiques the analysis and conclusions of the Atacama mummy genome sequencing study.

In PLOS this week: transcription levels linked to uracil mutations, transcriptomic analysis of medicinal leech, and more.

An Associated Press poll finds that most US adults say they'd want to know whether they carried a gene variant predisposing them to an incurable disease.

Jul
24
Sponsored by
Qiagen

In this webinar, Dr. Fergus Couch from the Mayo Clinic will present data from a large study that used a targeted sequencing panel to determine pancreatic cancer risk associated with inherited mutations in several cancer predisposition genes.

Aug
07
Sponsored by
Qiagen

This webinar will present the results of an evaluation of a web-based variant interpretation software system for clinical next-generation sequencing.

Aug
20
Sponsored by
Canon BioMedical

This webinar will provide an overview of recent advances in single-cell RNA sequencing from the perspectives of three research organizations.

Aug
27
Sponsored by
Qiagen

This webinar offers a look at how an advanced genetics laboratory implemented and validated a commercial bioinformatics system to help scale its operations.