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NCBI, Illumina, University of California, Santa Cruz

The National Center for Biotechnology Information has released human genotype data for dbSNP Build 127 via its ftp site.
NCBI has also released Blast 2.2.16 here. The new release includes performance improvements for nucleotide searches and some bug fixes.

Illumina has launched a custom-content methylation offering for its GoldenGate methylation platform that enables researchers to select genes or gene regions in order to survey up to 1,536 methylation sites across 96 samples simultaneously.

The Genome Bioinformatics Group at the University of California, Santa Cruz, has released a new gene prediction set, UCSC Genes, via the UCSC Genome Browser (hg18, NCBI Build 36). The annotation set includes putative non-coding genes as well as protein-coding genes and 99.9 percent of RefSeq genes. It supersedes the existing Known Genes annotation on the hg18 assembly, UCSC said.
In conjunction with the release of the UCSC Genes data set, UCSC has also released companion annotation track on the hg18 assembly called Alt Events, which shows alternative splicing, alternative promoter, and other events that result in more than a single transcript from the same gene.    

The Scan

Genetic Tests Lead to Potential Prognostic Variants in Dutch Children With Dilated Cardiomyopathy

Researchers in Circulation: Genomic and Precision Medicine found that the presence of pathogenic or likely pathogenic variants was linked to increased risk of death and poorer outcomes in children with pediatric dilated cardiomyopathy.

Fragile X Syndrome Mutations Found With Comprehensive Testing Method

Researchers in Clinical Chemistry found fragile X syndrome expansions and other FMR1 mutations with ties to the intellectual disability condition using a long-range PCR and long-read sequencing approach.

Team Presents Strategy for Speedy Species Detection in Metagenomic Sequence Data

A computational approach presented in PLOS Computational Biology produced fewer false-positive species identifications in simulated and authentic metagenomic sequences.

Genetic Risk Factors for Hypertension Can Help Identify Those at Risk for Cardiovascular Disease

Genetically predicted high blood pressure risk is also associated with increased cardiovascular disease risk, a new JAMA Cardiology study says.