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 ...

A spectrum of nondiabetic kidney diseases is associated with APOL1 high-risk genotypes (G1G1, G1G2, and G2G2), but the M1 variant has been understudied.

“Most diagnosed SYNGAP1-Related Disorder (SRD) patients have protein truncating variants (PTV) as opposed to missense variants. Virtually all PTVs are assumed to have the same impact at the molecular ...

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, ...

A single-letter change in a protein that guards brain cells against a toxic form of death may help explain why Alzheimer’s ...

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 ...

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 ...