Project description:A major challenge in genomics is deciphering the functional consequences of non-coding genetic variation. Here we created AlphaGenome Atlas, which enables the joint interpretation and prioritization of variant effects across the entire human genome. Using AlphaGenome, we predicted the regulatory effects of every possible human single nucleotide variant and many common indels. These predictions were then used to derive a unified and interpretable AlphaGenome Variant Impact (AVI) score and to discover and annotate cis-regulatory motifs across the genome. On clinical, complex trait and rare disease benchmarks, AVI achieved state-of-the-art performance especially on non-coding variants, enabling us to solve an epilepsy rare disease case. Application of Atlas including AVI increased the statistical power and interpretability for rare non-coding variants driving population-level phenotypes. Thus, AlphaGenome Atlas improves the prioritization and molecular interpretation of non-coding variants with genetic and clinical significance.
2026-09-08 | GSE343944 | GEO
Project description:Challenging of ECMO Application in Pediatric Restrictive Cardiomyopathy: Case Report of a Novel TNNI3 Variant
| PRJNA1109441 | ENA
Project description:LAMM syndrome with cholesteatoma associated with a novel FGF3 mutation: A Case Report
Project description:Enteropathy associated T-cell lymphoma (EATL) is a rare non-Hodgkin lymphoma that may complicate celiac disease and typically occurs in patients with refractoriness to the gluten- free diet. The majority of these patients harbor intra-epithelial lymphocytes (IEL) with an aberrant phenotype in the small intestine which are thus considered as the ‘precursor’ lymphoma cells. We here report on a case of extra-intestinal EATL that originated from a clonal γδ-IEL population rather than from aberrant IEL. This EATL displayed a distinctive pattern of immunophenotypical, T-cell receptor immunogenetic, and chromosomal aberrancies defining this lymphoma as a novel variant of EATL.
2014-04-02 | GSE56425 | GEO
Project description:New Clinical Features and a Novel DCDC2 Variant in Neonatal Sclerosing Cholangitis: A Case Report of Two Patients