Brigham and Women's Hospital
Fetal Exome Sequencing Studies Point to Noninvasive Prenatal Screening Applications
New research suggests trio exome sequencing on parental DNA samples and cell-free DNA from maternal plasma can successfully uncover clinically relevant fetal variants.
Rheumatoid Arthritis Inflammatory Subtypes, Treatment Responses Uncovered in Synovial Tissue Study
With the help of single-cell RNA sequencing, single-cell CITE-seq, and other approaches, researchers saw six synovium-based inflammatory subtypes marked by distinct cell states.
Human Brain Circular RNAs Linked to Neuron Type, Neuropsychiatric Conditions
Using deep RNA sequencing, researchers identified cell type- and disease-related circRNAs in brain samples from individuals with or without Parkinson’s or Alzheimer’s disease.
BabySeq Project Unearths Actionable Genetic Variants Impacting Infants, Parents
Researchers saw monogenic disease-related mutations in almost 11 percent of infants' genomes, prompting further testing and management, including for family members.
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