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Discovery Life Sciences SpecimenSeq

Discovery Life Sciences has launched SpecimenSeq, a collection of high-quality, fully consented biospecimens to help researchers identify, develop, and validate new biomarker signatures for precision medicine applications.

SpecimenSeq is composed of matched biospecimen sets including FFPE, double-spun plasma, and buffy coat formats from treatment-naive cancer patients. The biospecimens are fully annotated with clinical data and the FFPE biospecimens specifically include clinically relevant genomic variants from 64 genes. Genomic data for SpecimenSeq are produced using the custom HAD QGEN MultiModal Panel-based DNA and RNA analysis service available exclusively through Discovery's sequencing and bioinformatics laboratory, HudsonAlpha Discovery. This panel service uses Qiagen's QIAseq MultiModal targeted DNA and RNA sequencing chemistry and analysis platform that is also available as a standalone service through HudsonAlpha Discovery with variant allele frequency detection at less than 5 percent.

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.