genotype-phenotype analysis

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

Researchers at Columbia University and CHOP believe they can shorten time to diagnosis and improve yield by extracting phenotypic data from EHRs for genomic labs.

The All of Us Participant Technology Systems Center offers web and mobile apps to aggregate data and engage patients who join the All of Us cohort program.

"Repurposing starts with the human genome," a precision medicine expert said in explaining Vanderbilt's new approach to accelerating clinical trials.

The newly emerged Nashville Biosciences has the considerable genomics and bioinformatics resources of Vanderbilt behind it as it promotes new R&D techniques.

The Martinos Center, Envision Genomics, and startup RowAnalytics are building an open precision medicine platform called Giro Health on IBM architecture.

TreeWAS provides a method for identifying gene variant-phenome associations in heterogenous biobank data without compromising phenotypic resolution.

The release has been accompanied by acute interest from the genomics community, which views the resource as a "game changer" for anyone working in human genetics.

Researchers applied a SNP heritability model called LDAK to genetic data for a range of human traits, uncovering relatively high levels of variance explained by SNPs.

Objectives for this year include building a network of ELIXIR beacons, developing new features and security measures, and partnering with data owners.

Pages

The US Food and Drug Administration has approved Alnylam's RNAi-based therapy Onpattro, according to Stat News.

Harvard Medical School's Seth Cassel and Cigall Kadoch argue in a Baltimore Sun op-ed that the recent TAILORx trial shows the potential of genomic-based medicine.

Researchers in the UK are working on using gene drives to control malaria-carrying mosquitoes, the Telegraph reports.

In PLOS this week: genetic architecture mediating gene expression, metabolomic patterns in multiple myeloma, and more.