Analyzes exome, genome, UK Biobank and functional genomics datasets with Hail, gnomAD and Genebass. Uses these resources to interpret disease variants and human genome biology.
52 papers since 2024
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Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature, 2024
Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects
medRxiv, 2024
A harmonized public resource of deeply sequenced diverse human genomes
Develops statistical methods and analyzes GWAS, exome-sequencing and genome-sequencing data for human-disease genetics. Focuses on autism, psychiatric, inflammatory bowel, autoimmune and diabetes genetics.
93 papers since 2024
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Proteomic aging clock predicts mortality and risk of common age-related diseases in diverse populations
Nature Medicine, 2024
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature, 2024
Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects
Studies diabetes genetics using human genetic and clinical data, single-cell imaging and transcriptomics, and cellular/animal models. Translates variants into mechanisms, treatment response, and clinical practice.
57 papers since 2024
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A genome-wide atlas of human cell morphology
Nature Methods, 2025
Integrative proteogenomic analysis identifies COL6A3-derived endotrophin as a mediator of the effect of obesity on coronary artery disease
Nature Genetics, 2025
Multi-ancestry polygenic mechanisms of type 2 diabetes
Develops statistical genetics methods using GWAS, exome-sequencing and whole-genome sequencing data. Applies them to schizophrenia and inflammatory bowel disease with PGC and IIBDGC.
58 papers since 2024
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Mitochondrial complex I activity in microglia sustains neuroinflammation
Nature, 2024
Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder
Nature Genetics, 2024
Systems biology dissection of PTSD and MDD across brain regions, cell types, and blood
GWAS / genome-wide SNP data, Genome-wide genotyping, Whole-exome sequencing, Whole-genome sequencing, High-density genotyping, NanoString code set
Techniques
Bayesian fine-mapping, Cross-ancestry polygenic risk prediction, Rare variant association studies, Admixture population methods, Structural and copy number variation analysis
Develops bioinformatics tools for genomics, transcriptomics, proteomics, structural biology, DNA-encoded library and HTS data. Applies them to mutation mechanisms and drug discovery.
159 papers since 2024
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Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders
Scientific Reports, 2024
Activating Point Mutations in the MET Kinase Domain Represent a Unique Molecular Subset of Lung Cancer and Other Malignancies Targetable with MET Inhibitors
Cancer Discovery, 2024
Genomics 2 Proteins portal: a resource and discovery tool for linking genetic screening outputs to protein sequences and structures
DNA-encoded library (DEL) screening, High-throughput screening (HTS), Base editor (BE) mutagenesis screens, Massively-parallel functional genomic screens, ESM1v, ESM2, Protein Data Bank, AlphaFold databases
Techniques
Protein structural bioinformatics, Machine learning, Computational biophysics, All-atom molecular dynamics simulations, AlphaFold structure prediction, In silico saturation mutagenesis, Protein language model embeddings, Mutagenesis-readout clustering
Develops statistical methods for GWAS, SNP arrays, WES, WGS and EHR data. Studies psychiatric disorders with UK Biobank and the Psychiatric Genomics Consortium.
83 papers since 2024
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Genomics yields biological and phenotypic insights into bipolar disorder
Nature, 2025
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature, 2024
Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects
Develops computational models for whole-genome, exome, GWAS and Hi-C data. Applies statistical genetics to diabetes, rare disease and drug-target discovery.
36 papers since 2024
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Integrative proteogenomic analysis identifies COL6A3-derived endotrophin as a mediator of the effect of obesity on coronary artery disease
Nature Genetics, 2025
Rare coding variant analysis for human diseases across biobanks and ancestries
Nature Genetics, 2024
Genetic architecture and biology of youth-onset type 2 diabetes
Analyzes GWAS, low-coverage sequencing, biobank and 1000 Genomes data. Uses them for polygenic risk prediction, psychiatric genetics and population history.
61 papers since 2024
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Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature, 2024
Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects
medRxiv, 2024
A harmonized public resource of deeply sequenced diverse human genomes
Generates and analyzes data from Illumina NovaSeq X Plus, PacBio Revio, 10x single-cell and Olink Explore HT. Supports research, clinical testing and clinical-trial projects.
Illumina NovaSeq X Plus, PacBio Revio, 10x Single Cell Gene Expression, 10x Genomics Single Cell Multiome, Olink Explore HT assay, Oxford Nanopore PromethION, Element AVITI, Ultima Genomics UG 100
Develops long-read RNA isoform sequencing, MAS-ISO-seq, Perturb-seq and single-cell RNA-seq methods. Uses them for cancer transcriptomics and billion-cell functional genomics.
4 papers since 2024
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Proteotranscriptomic Dissection of Breast Cancer T Cell States Identifies CD103+ Tfh-derived Cytotoxic Cells Linked to Immunotherapy Response
Research Square, 2026
Abstract 495: Single-cell multiomic drug response profiling of PRISM-multiplexed cancer cell lines sequenced with SBX.
Cancer Research, 2026
Long-read RNA sequencing improves isoform and splicing outlier detection in whole blood from rare disease trios
““feel free to browse our open positions or reach out to stpcareers@broadinstitute.org.” — https://www.broadinstitute.org/technology-areas/spatial-technology-platform/join-team”
Analyzes genomic biobank, coronary CT plaque, and electronic health record data with machine learning. Uses them for coronary disease discovery, risk prediction, and genomic-medicine studies.
49 papers since 2024
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AHA PREVENT Equations and Cardiovascular Disease Risk in Diverse Health Care Populations
Journal of the American College of Cardiology, 2025
Association of genetic risk, lifestyle, and their interaction with obesity and obesity-related morbidities
Cell Metabolism, 2024
Multivariate genomic analysis of 5 million people elucidates the genetic architecture of shared components of the metabolic syndrome
Genomic data from biobanks, Coronary CT plaque imaging, Coronary CT angiography, Electronic health records, Coronary angiography data, Whole-genome sequencing, UK Biobank
Techniques
Human genetics, Deep phenotyping, Polygenic risk scores, Machine learning, Statistical genetics, Genomic medicine implementation, Large language models, Clinical trials
““feel free to browse our open positions or reach out to stpcareers@broadinstitute.org.” — https://www.broadinstitute.org/technology-areas/spatial-technology-platform/join-team”
Develops statistical and computational methods integrating genetic, molecular and functional data. Analyzes UK Biobank, GTEx and complex-trait data for fine-mapping and gene prioritization.
10 papers since 2024
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Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects
Nature Genetics, 2025
Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects
medRxiv, 2024
Convergence of coronary artery disease genes onto endothelial cell programs
Analyzes exome and genome sequencing data with Hail, principal-component analysis and random-forest methods. Supports rare-disease diagnosis and variant interpretation.
10 papers since 2024
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Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature, 2024
A harmonized public resource of deeply sequenced diverse human genomes
Genome Research, 2024
Quantifying constraint in the human mitochondrial genome
Develops genome-wide CRISPR, optical pooled screening and single-cell transcriptomic methods. Studies human tumor immunity, sepsis, autoimmunity and innate immune circuits.
109 papers since 2024
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A neoantigen vaccine generates antitumour immunity in renal cell carcinoma
Nature, 2025
Human lung cancer harbors spatially organized stem-immunity hubs associated with response to immunotherapy
Nature Immunology, 2024
The aged tumor microenvironment limits T cell control of cancer
Collaborators: Massachusetts General Hospital, Mass General Brigham +2 more
CancerSpatial transcriptomics
Koyama Lab | Human Genetics and Personalized Medicinekoyama-lab.org
Dry lab~9 people
Analyzes whole-genome sequencing, GWAS, RVAS and biobank health data. Develops polygenic risk scores for cardiometabolic disease and precision prevention.
80 papers since 2024
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Integrative proteomic analyses across common cardiac diseases yield mechanistic insights and enhanced prediction
Nature Cardiovascular Research, 2024
Rare coding variant analysis for human diseases across biobanks and ancestries
Nature Genetics, 2024
Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience
Analyzes whole-genome, whole-exome, RNA-seq, multi-omics and biobank data. Develops ancestry-aware variant interpretation, polygenic risk scores and precision medicine for type 2 diabetes.
56 papers since 2024
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Genetic drivers of heterogeneity in type 2 diabetes pathophysiology
Nature, 2024
Multi-ancestry polygenic mechanisms of type 2 diabetes
Nature Medicine, 2024
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes
“2023-2025: Siwaar Abouhala was a Clinical Research Coordinator working on the Rare Genomes Project (RGP), an NIH-funded, direct-to-patient genome sequencing study.”
Generates single-cell and spatial transcriptomics datasets and builds AI models for tumor-microenvironment states. Builds ex vivo cancer models for precision-oncology therapy selection.
49 papers since 2024
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Mechanisms of Resistance to Oncogenic KRAS Inhibition in Pancreatic Cancer
Cancer Discovery, 2024
Cancer tissue of origin constrains the growth and metabolism of metastases
Nature Metabolism, 2024
Scalable, compressed phenotypic screening using pooled perturbations
Studies human behavioral and cognitive variation using GWAS and exome data. Develops quantitative approaches to characterize polygenic risk in neuropsychiatric disease.
36 papers since 2024
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Mapping the genetic landscape across 14 psychiatric disorders
Nature, 2025
Transcriptome-wide analysis of differential expression in perturbation atlases
Nature Genetics, 2025
Polygenic and developmental profiles of autism differ by age at diagnosis
Develops and validates computational workflows for genomic sequencing, WGS, CMA, and Illumina DRAGEN. Applies them to reliable clinical reporting and patient care.
Runs in vivo CRISPR screens in mouse models across genes and immunotherapies. Uses functional genomics and single-cell profiling to discover cancer-immunotherapy resistance mechanisms and targets.
12 platforms and techniques
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Works with
In vivo CRISPR screen platform, RNA-seq, Single-cell profiling of clinical tumor specimens, CRISPR antigen-removal lentiviral vector system
Techniques
In vivo genetic screening, Mouse models, Cellular immunology, Functional genomics, NSG mice, Immune checkpoint blockade therapy, Antigen presentation in MHC, Single-cell profiling
Analyzes genetic variation and patient genomic data from UK Biobank, Mass General Brigham Biobank and All of Us. Studies diabetes subtypes through RADIANT.
91 papers since 2024
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Genetic drivers of heterogeneity in type 2 diabetes pathophysiology
Nature, 2024
Multi-ancestry polygenic mechanisms of type 2 diabetes
Nature Medicine, 2024
Effective interventions in preventing gestational diabetes mellitus: A systematic review and meta-analysis
Curates gene, variant and disease-ontology data for ClinGen and Matchmaker Exchange. Supports clinical genomics through expert panels and curation standards.
27 papers since 2024
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The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation
Genetics in Medicine, 2024
HGVS Nomenclature 2024: improvements to community engagement, usability, and computability
Genome Medicine, 2024
Implementation of a dyadic nomenclature for monogenic diseases