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NEW YORK (GenomeWeb) — After conventional diagnostic approaches came up dry, researchers turned to a next-generation sequencing pipeline to pinpoint the cause of a teenaged boy's encephalitis.

The boy, who also has severe combined immunodeficiency, was hospitalized for six weeks after being ill on and off for nearly a year while clinicians and researchers scrambled to determine what was causing his escalating symptoms.

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Researchers tie a variant in ADAMTS3 to breathing difficulties in dissimilar dog breeds, according to Discover's D-brief blog.

The Japan Times reports that researchers sequenced the genome of a woman who lived during the Jomon period.

Parents of children with rare genetic disease have to contend with shifts in the interpretation of genetic variants, the Wall Street Journal reports.

In Science this week: single-nucleus RNA sequencing of brain tissue from individuals with autism, and more.

May
21
Sponsored by
Qiagen

This webinar will provide a first-hand look at how a hematology/oncology lab in the UK set up and validated three molecular assays for routine in-house use.

May
22
Sponsored by
Stilla

This webinar will outline the entire liquid biopsy workflow from cell-free DNA isolation to mutation detection by Crystal Digital PCR with the Naica System from Stilla Technologies.

Jun
17
Sponsored by
Illumina

This webinar will provide an overview of polygenic risk scores, which aggregate dozens of genetic variants that have been linked to disease risk in genome-wide association studies (GWAS) into a single score.

Jun
18
Sponsored by
ArcherDX

This webinar will discuss background and clinical genomics of NTRK fusion detection in cancer. NTRK fusions are the focus of new therapeutic options, but clonal and subclonal lesions are notoriously difficult to detect.