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Downloads and Upgrades: NantHealth, dbSNP Build 141, and Nexus Copy Number for Affymetrix


NantHealth said this week that it has launched a fully integrated genomic and transcriptomic analytic engine that can identify mutations such as copy number variants and genomic rearrangements in DNA, RNA, and protein pathways accurately and efficiently.

The National Center for Biotechnology Information said this week that dbSNP human Build 141 is now available on the integrated NCBI Entrez system and via ftp. NCBI has also released companion VCF files, which include several sequences of clinical interest that are often not included in builds.

Affymetrix and BioDiscovery have launched Nexus Copy Number for Affymetrix, a new analysis solution specifically for data generated by Affymetrix’ genetic analysis platforms in cancer research, including the CytoScan Cytogenetics suite and OncoScan FFPE Assay kit.

The Scan

Genetic Testing Approach Explores Origins of Blastocyst Aneuploidy

Investigators in AJHG distinguish between aneuploidy events related to meiotic missegregation in haploid cells and those involving post-zygotic mitotic errors and mosaicism.

Study Looks at Parent Uncertainties After Children's Severe Combined Immunodeficiency Diagnoses

A qualitative study in EJHG looks at personal, practical, scientific, and existential uncertainties in parents as their children go through SCID diagnoses, treatment, and post-treatment stages.

Antimicrobial Resistance Study Highlights Key Protein Domains

By screening diverse versions of an outer membrane porin protein in Vibrio cholerae, researchers in PLOS Genetics flagged protein domain regions influencing antimicrobial resistance.

Latent HIV Found in White Blood Cells of Individuals on Long-Term Treatments

Researchers in Nature Microbiology find HIV genetic material in monocyte white blood cells and in macrophages that differentiated from them in individuals on HIV-suppressive treatment.