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Downloads and Upgrades: Enlis Genome Research 1.6, RefSeq 64, GATK 3.1, and more.

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Enlis Genomics has released a new version of Enlis Genome Research, its software for analyzing genome, exome, and targeted sequencing data.

Version 1.6 includes bug fixes, a new annotation version, new bam file integration, a new genomic position locator tool, a variation filter tool, and more.


RefSeq 64 is now available from the National Center for Biotechnology Information via FTP.

This release has nearly 50 million records describing 37,818,139 proteins, 6,198,996 RNAs, and sequences from 33,693 different organisms. More details are available in the release statistics and notes.


Core Informatics has released a new Platform-as-a-Service offering hosted on Amazon Web Services that provides several applications for customers in all phases of scientific product innovation and development.

Applications in the platform include the company’s Chem ELN, Bio ELN, its compound and biological registration tools, and a collection of next generation sequencing workflows that provide out-of-the-box support for Illumina and Ion Torrent platforms. The system also provides application programming interfaces that enable clients, partners, and application developers integrate data from existing software applications and instrumentation.


The Broad Institute and Intel said this week that version 3.1 of the Genome Analysis toolkit has been optimized for Intel Advanced Vector Extensions, which are found in Intel Xeon-based servers, enabling the tool achieve three to five times overall improvement in variant discovery.


Researchers at the Children’s Hospital of Philadelphia have released the Proband App, an application that’s designed for collecting data during genetic counseling interviews and other similar settings. The tool enables genetic counselors and other healthcare providers to create standardized pedigrees during patient encounters. It is available on the iTunes App store for a limited-time introductory price of $1.99.


Filed under

The Scan

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In Genome Medicine, researchers found pathogenic or likely pathogenic hereditary cancer risk variants in close to 17 percent of the 17,523 patients profiled with expanded germline genetic testing.

Mitochondrial Replacement Therapy Embryos Appear Largely Normal in Single-Cell 'Omics Analyses

Embryos produced with spindle transfer-based mitochondrial replacement had delayed demethylation, but typical aneuploidy and transcriptome features in a PLOS Biology study.

Cancer Patients Report Quality of Life Benefits for Immune Checkpoint Inhibitors

Immune checkpoint inhibitor immunotherapy was linked in JAMA Network Open to enhanced quality of life compared to other treatment types in cancer patients.

Researchers Compare WGS, Exome Sequencing-Based Mendelian Disease Diagnosis

Investigators find a diagnostic edge for whole-genome sequencing, while highlighting the cost advantages and improving diagnostic rate of exome sequencing in EJHG.