Gonçalo R. Abecasis

Career Trajectory

Research Cluster Map

Direct collaborators. Node size = influence, colour = community, dashed = past collaboration.

• Rare loss-of-function variants in <i>POLD1, PMS1</i> and <i>FAN1</i> modify age at onset of motor symptoms in Huntington’s disease

  medRxiv · 2026-06-22 · 1 citations

• Humans with function-disrupting variants in the myostatin gene (MSTN) have increased skeletal muscle mass and strength, and less adiposity

  Nature Communications · 2026-03-13 · 1 citations

• Rare coding variants in CHRNB3 associate with reduced daily cigarette smoking across ancestries

  Nature Communications · 2026-02-24

• Genetic determinants and genomic consequences of non-leukemogenic somatic point mutations

  UNC Libraries · 2025-12-17

• Genomic Ascertainment of <i>CHEK2</i> -Related Cancer Predisposition

  JAMA Network Open · 2025-12-15 · 2 citations

• Computationally efficient meta-analysis of gene-based tests using summary statistics in large-scale genetic studies

  Nature Genetics · 2025-11-12 · 4 citations

• Variant Classification Using Proteomics‐Informed Large Language Models Increases Power of Rare Variant Association Studies and Enhances Target Discovery

  Genetic Epidemiology · 2025-11-03 · 1 citations

• Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis

  UNC Libraries · 2025-10-21

• Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program

  UNC Libraries · 2025-10-17

• Genetic determinants and genomic consequences of non-leukemogenic somatic point mutations

  Nature Communications · 2025-10-16 · 2 citations

• Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk

  Nature Genetics · 2025-03-01 · 27 citations

• A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies

  Nature Computational Science · 2025-02-07 · 10 citations

• Author Correction: A deep catalogue of protein-coding variation in 983,578 individuals

  Nature · 2025-01-08

• Author Correction: Common and rare variant associations with clonal haematopoiesis phenotypes

  Nature · 2025-01-08

• Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

  MDC Repository (Max-Delbrueck-Center for Molecular Medicine) · 2024-12-20

• Computationally efficient meta-analysis of gene-based tests using summary statistics in large-scale genetic studiesPreprint

  medRxiv · 2024-12-08 · 2 citations

• Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas

  2024-11-13

• Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas

  Cell Genomics · 2024-10-31 · 28 citations

• Genetic Associations of Persistent Opioid Use After Surgery Point to <i>OPRM1</i> but Not Other Opioid‐Related Loci as the Main Driver of Opioid Use Disorder

  Genetic Epidemiology · 2024-10-09 · 2 citations

• Joint testing of rare variant burden scores using non-negative least squares

  The American Journal of Human Genetics · 2024-10-01 · 12 citations