Genomic Variant Data Sharing Gains Support; Collaboration Seen as Key to Interpretation Challenge

May 02, 2016

|

Premium

NEW YORK (GenomeWeb) – Genomic sequencing performed as part of the BabySeq project recently revealed a puzzling variant in a newborn.

Researchers working on the project performed sequencing on the baby and identified an alteration in RYR1, a gene that codes for a protein present in skeletal muscle. Variants in this gene have been linked to congenital myopathy, a kind of muscle weakness present at birth, and RYR1 variants are also known to cause malignant hypothermia, a condition set off by anesthesia that can lead to heat stroke, infections, and even death.

Get the full story with
GenomeWeb Premium

Only $95 for the
first 90 days*

GenomeWeb Premium gives you:
✔ Full site access
✔ Interest-based email alerts
✔ Access to archives

Never miss another important industry story.

Try GenomeWeb Premium now.

You may already have institutional access!

Check if I qualify.

Already a GenomeWeb or 360Dx Premium member?
Login Now.

*Before your trial expires, we’ll put together a custom quote with your long-term premium options.

Not ready for premium?

Register for Free Content
You can still register for access to our free content.

Breaking News

The Scan

Gene Not Present

Retraction Watch reports that a paper was pulled because it refers to a gene that doesn't exist in mice.

From the Brink?

Researchers were able to generate fertilized northern white rhinoceros eggs, according to Mashable.

Former Employees Raise Testing Issues

Former Orig3n employees raise concerns about its testing at Bloomberg Businessweek.

PLOS Papers Explore HCC MicroRNAs, PCR-Based Schistosomiasis Diagnostics, More

In PLOS this week: microRNA expression changes in hepatocellular carcinoma, real-time PCR-based approach for diagnosing schistosomiasis, and more.

Featured White Papers

BlueBee Data Security & Compliance

Whole Genome Sequencing of Microbial Communities for Scaling Microbiome and Metagenomic Studies

Sep

18

Featured Webinar

Highly Sensitive Structural Variant Detection for Medical Genetics: A Comparison to the Standard of Care

This webinar will outline how a team at Radboud University Medical Center is assessing ultra-long read optical mapping on the Bionano Saphyr system to replace classical cytogenetics approaches in routine testing and for the discovery of novel structural variants with potential scientific, prognostic, or therapeutic value that are missed by standard approaches.

Oct

23

Featured Webinar

Single-Cell Methylation Profiling of Pediatric Tumors via a Unique NGS-based Approach

This webinar will illustrate how single-cell methylation sequencing can be applied to gain significant insight into epigenetic heterogeneity in disease states, advancing cancer research discoveries.

Oct

24

Featured Webinar

Designing, Decoding & Delivering on Genetic Testing for Inherited Disease at Versiti

This webinar will tell the story of Versiti’s journey in transforming genetic testing from a manual to a digitized process. It will include detail on how the organization succeeded, pain points along the way, a novel approach to variant assessment, and future plans for the program.

Menu