Rady Team Automates Rapid Pediatric Sequence Interpretation for Rare Disease Dx

Apr 24, 2019

|

NEW YORK (GenomeWeb) – Investigators at the Rady Children's Institute for Genomic Medicine (RCIGM) in San Diego have updated their pediatric sequencing program for diagnosing rare diseases, incorporating machine learning methods to generate, analyze, and interpret genetic data and get those insights to clinicians more quickly.

To read the full story....

...and receive Daily News bulletins.

Already have a GenomeWeb or 360Dx account?
Login Now.

Don't have a GenomeWeb or 360Dx account?
Register for Free.

Breaking News

The Scan

Areas of Limited Testing

The Wall Street Journal reports on gaps in COVID-19 testing affecting less affluent urban areas and rural locations.

Clouded 'Crystal Ball'

According to NBC News, new SARS-CoV-2 variants are making it harder for researchers to model the course of the pandemic.

Million a Day

The New York Times reports that experts say President Joe Biden's goal of vaccinating 1 million people a day in the US in the next 100 days is too low a bar.

Science Papers Trace Drivers of Metastasis; Genetic Analysis of Stone, Bronze Age Eastern Europeans

In Science this week: single-cell lineage tracing technique applied to study lung cancer metastasis, and more.

Featured White Papers

In-depth Quantification of Cell and Gene Therapy DNA Integrations Enabled with Single-cell Sequencing

Deep Understanding of Cell and Gene Therapy Genome Editing Protocols Enabled With Single-cell Sequencing

Illuminating the Role of the Adaptive Immune Response in Neurodegeneration

Transcriptional Profiling of 1.3 Million Brain Cells with the Chromium Single Cell Gene Expression Solution

Jan

26

Featured Webinar

Panel Discussion: Genotyping by Sequencing for Novel SNP Discovery with Less Common Genomes

Reduced representation next-generation sequencing (NGS) methods are driving understanding of both physical and structural variation in all species.

Jan

28

Featured Webinar

Implementation of a Customized Myeloid NGS-based Solution in an Academic Clinical Laboratory

This webinar discusses how the University of Michigan has implemented a new next-generation sequencing (NGS) capture-based solution to assess myeloid malignancies while minimizing required laboratory resources.

Feb

11

Featured Webinar

Virtual Molecular Tumor Board Series: HRD and DNA Damage Repair

In this session, the first in the Precision Oncology News Virtual Molecular Tumor Board Series, our expert panelists will review patient cases in which genomic profiling has identified biomarkers related to homologous recombination deficiency and DNA damage repair.

Feb

17

Featured Webinar

Single-Cell Multiomics Resolves a Sharp Disease-State Shift between Mild and Moderate COVID-19

Host immune responses play a central role in controlling SARS-CoV-2 infection, but they remain incompletely characterized and understood.

Menu

Rady Team Automates Rapid Pediatric Sequence Interpretation for Rare Disease Dx

To read the full story....

Breaking News

Microba, University of Queensland Partner to Study Gut Microbiome in Parkinson's Disease

In Brief This Week: Myriad Genetics, Guardant Health, Twist Bioscience, and More

People in the News: New Appointments at Foundation Medicine, Sophia Genetics, Circulogene; More

Predictive Oncology Announces $4.1M Direct Offering

Oppenheimer Initiates Coverage of DermTech With Outperform Rating

Invitae Prices $400M Common Stock Offering

The Scan

Areas of Limited Testing

Clouded 'Crystal Ball'

Million a Day

Science Papers Trace Drivers of Metastasis; Genetic Analysis of Stone, Bronze Age Eastern Europeans

Featured White Papers

Panel Discussion: Genotyping by Sequencing for Novel SNP Discovery with Less Common Genomes

Implementation of a Customized Myeloid NGS-based Solution in an Academic Clinical Laboratory

Virtual Molecular Tumor Board Series: HRD and DNA Damage Repair

Single-Cell Multiomics Resolves a Sharp Disease-State Shift between Mild and Moderate COVID-19

What's Popular?

Illumina Wins UK Patent Infringement Suit Against BGI, Affiliates

Ancestry Shutters Health Offering, Raising Questions About Future of Consumer Genomics

Microba, University of Queensland Partner to Study Gut Microbiome in Parkinson's Disease

Fresenius Building Large Renal Genomic Registry to Inform Precision Care for Kidney Disease

Molzym, Fraunhofer Developing Rapid Direct-From-Sample Sepsis Diagnostic Platform and Test

Sponsorships