Scientists have discovered an association between a variant in the synaptonemal complex protein, SYCE2, and pregnancy loss through the effects of recombination. An international collaboration led by ...
Kari Stefansson CEO of deCODE genetics with Guðmundur Nordahl, Thorunn A. Olafsdottir and Katla Kristjansdottir, scientists at deCODE genetics and authors on the paper. Scientists at deCODE genetics, ...
Scientists at deCODE genetics, a subsidiary of Amgen, and collaborators have published a study in Journal of Allergy and Clinical Immunology reporting a rare missense variant in STAT6 that protects ...
In a recent study published in Nature Genetics, a group of researchers advanced variant effect prediction across the human proteome by integrating deep evolutionary signals with human population ...
Dr. Courtney states, “When the SYNGAP1 gene encodes a truncation, caused by a nonsense, frame-shift or other mutation, loss of SynGAP1 protein results in disease. But what happens when there is a ...
Missense variants remain a challenge in genetic interpretation due to their subtle and context-dependent effects. While current prediction models perform well in known disease genes, generalizability ...
The Human Domainome 1—the largest library of human protein variants—reveals the cause of certain genetic disorders, paving the way for personalized medicines. “We measured every possible mutation in ...
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