{
  "abstract": "Here we developed and deployed the blended genome exome (BGE) method, a DNA library approach that generates low-pass whole-genome (1–4× mean depth) and deep whole-exome (30–40× mean depth) data in a single sequencing run. BGE is cost-effective, empowers most genomic discoveries possible with deep whole-genome sequencing and captures global common single-nucleotide polymorphism diversity. We applied BGE to sequence >53,000 samples from the PUMAS Project (Populations Underrepresented in Mental Illness Associations Studies), including African, African American and Latin American populations. Imputed genotypes showed high concordance with Illumina Global Screening Array calls ( R 2 ≥ 95% for minor allele frequency ≥1%; ≥90% for minor allele frequency <1%), with consistent performance across local ancestries in admixed cohorts. For protein-coding copy number variants, deletions and duplications spanning at least three exons had a positive predicted value of ~90% relative to deep whole-genome data. At ~28% of the cost of deep whole-genome sequencing, BGE provides a scalable, reliable platform to expand genomic discovery and equitable access to sequencing in underrepresented populations.",
  "abstract_shown": true,
  "affiliations": [
    "Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA",
    "Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA",
    "Department of Biomedical Data Sciences, Stanford University, Stanford, CA, USA",
    "Broad Clinical Labs, Broad Institute of MIT and Harvard, Cambridge, MA, USA",
    "Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA",
    "Department of Psychiatry and Mental Health and South African Medical Council Research Unit on Risk and Resilience in Mental Disorders, Neuroscience Institute, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa",
    "Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA",
    "Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA",
    "The Collaboratory, Institute for Quantitative and Computational Biosciences, University of California Los Angeles, Los Angeles, CA, USA",
    "QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia",
    "BD2: Breakthrough Discoveries for thriving with Bipolar Disorder, Santa Monica, CA, USA",
    "Center for Data Sciences, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA",
    "Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA",
    "Department of Microbiology, Immunology, and Parasitology, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia",
    "Department of Psychiatry, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia",
    "Department of Immunology and Molecular Biology, College of Health Sciences, Makerere University, Kampala, Uganda",
    "Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA",
    "Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA",
    "Institute for Genomics in Health, The State University of New York, Brooklyn, NY, USA",
    "Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA",
    "Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, MA, USA",
    "Department of Neurology, Massachusetts General Hospital, Boston, MA, USA",
    "Centre for Innovative Drug Development and Therapeutic Trials for Africa, Addis Ababa University, Addis Ababa, Ethiopia",
    "Epidemiology Branch, Division of Population Health Research, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA",
    "Department of Mental Health, Moi Teaching and Referral Hospital, Eldoret, Kenya",
    "Department of Medical Laboratory Sciences, School of Health Sciences, Alupe University, Busia, Kenya",
    "Department of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa",
    "School of Biomedical Sciences, School of Medicine, College of Health Sciences, Makerere University, Kampala, Uganda",
    "Department of Pharmacology and Toxicology, Moi University School of Medicine, Eldoret, Kenya",
    "Department of Medicine, Kyung Hee University College of Medicine, Seoul, Republic of Korea",
    "SA MRC Unit on Risk and Resilience in Mental Disorders, University of Cape Town and Neuroscience Institute, Cape Town, South Africa",
    "Department of Psychiatry, School of Medicine, College of Health Sciences, Makerere University, Kampala, Uganda",
    "Department of Computer Science, University of California Los Angeles, Los Angeles, CA, USA",
    "Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA",
    "Epidemiology and Demography Department, KEMRI-Wellcome Trust Research Programme-Coast, Kilifi, Kenya",
    "Department of Biological and Morphofunctional Sciences, College of Medicine and Biological Sciences, Stefan cel Mare University of Suceava, Suceava, Romania",
    "Department of Clinical Pharmacy, Alfred E. Mann School of Pharmacy, University of Southern California, Los Angeles, CA, USA",
    "Department of Computers, Informatics, and Microelectronics, Technical University of Moldova, Chisinau, Moldova",
    "Małopolska Centre of Biotechnology, Jagiellonian University, Kraków, Poland",
    "Ampath Laboratories, Moi University School of Medicine, Eldoret, Kenya"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 98,
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      "name": "Toni A. Boltz",
      "orcid": "0000-0003-0226-7924"
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      "name": "Benjamin B. Chu",
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      "name": "Ana M. Díaz‐Zuluaga",
      "orcid": "0000-0002-6907-6017"
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      "name": "Abebaw Fekadu",
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      "name": "Michael Gatzen",
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      "name": "Bizu Gelaye",
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      "name": "Stella Gichuru",
      "orcid": "0000-0002-3024-8934"
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      "name": "M. Gildea"
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      "name": "Roxanne James"
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      "name": "M Joloba",
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      "name": "C. Kachulis",
      "orcid": "0000-0003-2095-7419"
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      "name": "Phillip R Kalmbach"
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      "name": "S Y Kim"
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      "name": "Edith K. Kwobah"
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      "name": "Seungmo Lee"
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      "name": "Conor R O'Neil"
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      "orcid": "0000-0002-7325-9211"
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  "bibtex": "https://research.draconitic.com/paper/cqmvkcc1rmhms.bib",
  "cited_by": 17,
  "doi": "10.1038/s41588-026-02669-w",
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  "id": "cqmvkcc1rmhms",
  "issns": [
    "1061-4036",
    "1546-1718"
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  "landing_url": "https://doi.org/10.1038/s41588-026-02669-w",
  "language": "en",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
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  "pdf_url": "https://www.nature.com/articles/s41588-026-02669-w.pdf",
  "pmcid": "PMC11398523",
  "pmid": "39282356",
  "published": "2026-07-08",
  "publisher": "Nature Portfolio",
  "ris": "https://research.draconitic.com/paper/cqmvkcc1rmhms.ris",
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      "subfield": "genetics-genomics"
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  "title": "A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner",
  "title_text": "A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner",
  "type": "peer-reviewed",
  "updated_at": "2026-11-07T13:20:47Z",
  "url": "https://research.draconitic.com/paper/cqmvkcc1rmhms",
  "venue": "Nature Genetics",
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