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Revvity introduces new workflow to accelerate newborn sequencing research

March 18, 2024
A “sample-to-answer” next generation newborn sequencing research workflow.
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CHOP researchers use “deep sequencing” to identify several previously undescribed genetic variants in vascular anomalies

June 13, 2023
The study captured genetic variants at extremely low levels, and dozens of patients began new therapies as a result of the findings.
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CDC webinar will focus on gene therapy in thalassemia

June 6, 2023
Next installment of CDC’s webinar series.
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UCLA study shows accuracy of genetically based disease predictions varies from individual-to-individual

May 24, 2023
Study highlights the need to move from populations to individuals in genomic medicine.
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Improving gene therapy with tiny bubbles

May 5, 2023
With Moderna Inc. global fellowship award, CWRU School of Medicine researchers hope to develop process that overcomes challenge of targeting diseased cells.
Photo 76894183 / 3d © Artem Egorov |
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Yale-led team creates comprehensive resource for impact of genomic variants

April 18, 2023
These advances will allow researchers and clinicians to better interpret potential disease-causing variants in an individual, connecting them to regulatory sites, nearby genes...
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Genetic causes of three previously unexplained rare diseases identified

March 17, 2023
A computational approach developed by Mount Sinai researchers helps identify previously unknown genetic causes of primary lymphedema, thoracic aortic aneurysm disease, and congenital...
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Researchers identify novel genes that may increase risk for schizophrenia

March 15, 2023
Largest known study of its kind also shows risk is shared across ethnicities.
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NIH software assembles complete genome sequences on-demand

Feb. 17, 2023
Software opens the door for a greater number of complete genome sequences.
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Massive international study uncovers genes involved in heart disease

Dec. 28, 2022
Scientists link dozens of new genome sites to coronary artery disease risk and pioneer a powerful method for illuminating the biological roots of common disease.
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CHOP researchers identify potential genetic variants linked to increased cancer risk in children with birth defects

Dec. 1, 2022
Study on understudied non-chromosomal birth defects provides information critical to potential early detection of malignant tumors.