Morning Overview on MSN

Long-read RNA sequencing tool boosts rare-disease diagnoses missed by DNA tests

For years, two siblings with the distinctive facial features of Treacher Collins syndrome had no genetic explanation for ...
GEN

Integrative Exome Sequencing and Machine Learning Identify New Genes Contributing to Systemic Sclerosis Risk

Scientists at the Baylor College of Medicine and collaborating institutions used complementary approaches that integrate exome sequencing and evolutionary action machine learning to identify protein ...

Newly identified RPN1 disease helps explain how protein damage can disrupt early brain development

Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have used a ...
TMCnet

Inocras and Broad Institute Researchers Present New TCGA Whole-Genome Cancer Insights, Accelerating Discovery in Cancer Genomics

Researchers from Inocras, a bioinformatics-led company harnessing the power of whole-genome data and proprietary analytics to ...
EDN

Next-Generation Exome Sequencing

Agilent Technologies introduced SureSelect Human All-Exon V5 and V5 + UTRs for next-generation sequencing. The new all-exon solutions incorporate the latest advances from Agilent Genomics, the ...
Nasdaq

GeneDx Integrates with Epic, Enabling Broad Adoption of Genome and Exome Sequencing for Health Systems to Inform Patient Diagnosis and Accelerate Treatment

GAITHERSBURG, Md.--(BUSINESS WIRE)-- GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, announced today its launch on Aura, Epic’s specialty diagnostics ...
Phgfoundation

Optimising EXome PREnatal Sequencing Services

The optimising EXome PREnatal Sequencing Services (EXPRESS) policy report outlines actions to strengthen clinical implementation of, and further research on, prenatal exome sequencing services in the ...

Baylor Genetics to Showcase the Impact of Early Genome Sequencing at Annual PLUGS Summit

Baylor Genetics, a leading diagnostic genomics partner offering a full spectrum of comprehensive genetic tests and diagnostic services, today announced it will be participating in the Patient-centered ...