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.
