ArticleNature genetics2026
A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner.
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Article in Nature genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13citing papers in PubMed
–field-weighted citation impact
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Who cites it
13 citing papers in PubMed.
- Neuropsychiatry genetics in Africa.Nature communications · 2026Review
- Telomere length analysis using qPCR in aplastic anemia: prevalence and predictive value for germline mutation status.Blood research · 2026Article
- Sequencing approaches in hereditary cancer testing: strengths, limitations and future directions.European journal of human genetics : EJHG · 2026Review
- Impact of TCAs and Gabapentin on Saliva and BMI in Adults With Xerostomia.Journal of oral rehabilitation · 2026Article
- Effect of ancestry and shared genetic architecture of serious mental illness on symptoms and cognition in an admixed Latin American population.Research square · 2026Article
- Effect of ancestry and shared genetic architecture of serious mental illness on symptoms and cognition in an admixed Latin American population.medRxiv : the preprint server for health sciences · 2026Article
- MetaGLIMPSE: Meta-imputation of low-coverage sequencing data for modern and ancient genomes.American journal of human genetics · 2026Article
- High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics.Clinical genetics · 2026Article
- The OurHealth Study: A digital genomic cohort for cardiometabolic risk mechanisms in US South Asians.NPJ digital medicine · 2026Review
- MetaGLIMPSE: Meta Imputation of Low Coverage Sequencing Data for Modern and Ancient Genomes.bioRxiv : the preprint server for biology · 2025Article
- The Psychiatric Genomics Consortium: discoveries and directions.The lancet. Psychiatry · 2025Review
- It's a wrap: deriving distinct discoveries with FDR control after a GWAS pipeline.bioRxiv : the preprint server for biology · 2025Article
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Authors and funding
98 authors.
Toni A Boltz *Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-0226-7924
Benjamin B Chu *Department of Biomedical Data Sciences, Stanford University, Stanford, CA, USA.
Matthew DeFelice *Broad Clinical Labs, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Calwing Liao *Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Julia M Sealock *Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Robert YeStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0009-0007-4947-9672
Jacqueline I GoldsteinStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Lerato MajaraStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jack M FuProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-4152-5471
Susan K ServiceCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.
Lingyu ZhanCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.
Sarah E MedlandQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0003-1382-380X
Sinéad B ChapmanStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-9454-2737
Simone RubinacciProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jonna L GrimsbyBroad Clinical Labs, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Tamrat AbebeDepartment of Microbiology, Immunology, and Parasitology, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
Melkam AlemayehuDepartment of Psychiatry, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
Fred K AshabaDepartment of Immunology and Molecular Biology, College of Health Sciences, Makerere University, Kampala, Uganda.
Elizabeth G AtkinsonDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0002-6308-776X
Tim B BigdeliInstitute for Genomics in Health, The State University of New York, Brooklyn, NY, USA.
Amanda B BradwayBroad Clinical Labs, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Harrison BrandProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Lori B ChibnikStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Samuel DeLucaBroad Clinical Labs, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Ana M Diaz-ZuluagaCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.
Abebaw FekaduDepartment of Psychiatry, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
Michael GatzenBroad Clinical Labs, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-5390-0705
Bizu GelayeStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-7934-548X
Stella GichuruDepartment of Mental Health, Moi Teaching and Referral Hospital, Eldoret, Kenya.
Marissa L GildeaBroad Clinical Labs, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Toni C HillBroad Clinical Labs, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Hailiang HuangStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-1461-5762
Kalyn M HubbardBroad Clinical Labs, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Wilfred E InjeraDepartment of Medical Laboratory Sciences, School of Health Sciences, Alupe University, Busia, Kenya.
Roxanne JamesDepartment of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.
Moses JolobaSchool of Biomedical Sciences, School of Medicine, College of Health Sciences, Makerere University, Kampala, Uganda.
Christopher KachulisBroad Clinical Labs, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-2095-7419
Phillip R KalmbachBroad Clinical Labs, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Rogers KamulegeyaSchool of Biomedical Sciences, School of Medicine, College of Health Sciences, Makerere University, Kampala, Uganda.
Gabriel KigenDepartment of Pharmacology and Toxicology, Moi University School of Medicine, Eldoret, Kenya.
Soyeon KimStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Nastassja KoenDepartment of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.
Edith K KwobahDepartment of Mental Health, Moi Teaching and Referral Hospital, Eldoret, Kenya.
Joseph KyebuzibwaDepartment of Psychiatry, School of Medicine, College of Health Sciences, Makerere University, Kampala, Uganda.
Seungmo LeeDepartment of Computer Science, University of California Los Angeles, Los Angeles, CA, USA.
Niall J LennonBroad Clinical Labs, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-2874-7371
Penelope A LindQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0002-3887-2598
Esteban A Lopera-MayaCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0001-5862-3938
Johnstone MakaleEpidemiology and Demography Department, KEMRI-Wellcome Trust Research Programme-Coast, Kilifi, Kenya.
Serghei MangulMałopolska Centre of Biotechnology, Jagiellonian University, Kraków, Poland.ORCID http://orcid.org/0000-0003-4770-3443
Justin McMahonStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-6388-1429
Pierre MowlemAmpath Laboratories, Moi University School of Medicine, Eldoret, Kenya.
Henry MusinguziDepartment of Immunology and Molecular Biology, College of Health Sciences, Makerere University, Kampala, Uganda.
Rehema M MwemaNeurosciences Unit, Clinical Department, KEMRI-Wellcome Trust Research Programme-Coast, Kilifi, Kenya.
Noeline NakasujjaDepartment of Psychiatry, School of Medicine, College of Health Sciences, Makerere University, Kampala, Uganda.
Carter P NewmanStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Lethukuthula L NkambuleStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-5682-2834
Conor R O'NeilBroad Clinical Labs, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Ana Maria OlivaresStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Catherine M OlsenQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0003-4483-1888
Linnet OngeriCentre for Clinical Research, Kenya Medical Research Institute, Nairobi, Kenya.
Sophie J ParsaStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Adele PretoriusDepartment of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa.
Shengying QinBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Shanghai Jiao Tong University, Shanghai, China.
Raj RamesarMRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.ORCID http://orcid.org/0000-0001-5688-1634
Faye L ReaganBroad Clinical Labs, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Chiara SabattiDepartment of Biomedical Data Sciences, Stanford University, Stanford, CA, USA.
Jacquelyn A SchneiderBroad Clinical Labs, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Welelta ShiferawDepartment of Psychiatry, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
Christine StevensStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-2621-2234
Anne StevensonStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-7890-3291
Erik StrickerDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0003-2112-2202
Rocky E StroudStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jessie TangBroad Clinical Labs, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Megan TownsendBroad Clinical Labs, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
David WhitemanQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0003-2563-9559
Mary T YohannesStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Mingrui YuStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-2749-0690
Kai YuanStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-8460-6581
NeuroGAP-Psychosis Study
Dickens AkenaDepartment of Psychiatry, School of Medicine, College of Health Sciences, Makerere University, Kampala, Uganda.
Lukoye AtwoliDepartment of Mental Health and Behavioural Sciences, School of Medicine, Moi University College of Health Sciences, Eldoret, Kenya.ORCID http://orcid.org/0000-0001-7710-9723
Symon M KariukiNeurosciences Unit, Clinical Department, KEMRI-Wellcome Trust Research Programme-Coast, Kilifi, Kenya.ORCID http://orcid.org/0000-0002-3934-5132
Karestan C KoenenStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-2978-7655
Charles R J C NewtonNeurosciences Unit, Clinical Department, KEMRI-Wellcome Trust Research Programme-Coast, Kilifi, Kenya.
Dan J SteinSA MRC Unit on Risk and Resilience in Mental Disorders, University of Cape Town and Neuroscience Institute, Cape Town, South Africa.ORCID http://orcid.org/0000-0001-7218-7810
Solomon TeferraDepartment of Psychiatry, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
Zukiswa ZingelaExecutive Dean's Office, Faculty of Health Sciences, Nelson Mandela University, Gqebera, South Africa.
Carlos N PatoBD2: Breakthrough Discoveries for thriving with Bipolar Disorder, Santa Monica, CA, USA.
Michele T PatoBD2: Breakthrough Discoveries for thriving with Bipolar Disorder, Santa Monica, CA, USA.
Carlos Lopez-JaramilloDepartment of Psychiatry, University of Antioquia, University of Antioquia, Medellín, Antioquia, Colombia.
Nelson B FreimerCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0003-3586-6587
Roel A OphoffCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0002-8287-6457
Loes M Olde LoohuisCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0002-3327-7837
Michael E TalkowskiStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-2889-0992
Benjamin M NealeStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. bneale@broadinstitute.org.ORCID http://orcid.org/0000-0003-1513-6077
Daniel P HowriganStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. howrigan@broadinstitute.org.ORCID http://orcid.org/0000-0002-7721-4838
Alicia R MartinStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. armartin@broadinstitute.org.ORCID http://orcid.org/0000-0003-0241-3522
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MCenter for Common Disease GeneticsUM1HG008895 · NHGRI · BROAD INSTITUTE, INC. · PI DALY, MARK JOSEPH, GABRIEL, STACEY · 2016 to 2020
$111.2M1/4 Powering Genetic Discovery for Severe Mental Illness in Latin American and African AncestriesU01MH125047 · NIMH · BROAD INSTITUTE, INC. · PI MARTIN, ALICIA, NEALE, BENJAMIN MICHAEL · 2020 to 2024
$11.5M2/4 Powering Genetic Discovery for Severe Mental Illness in Latin American and African AncestriesU01MH125045 · NIMH · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI KOENEN, KARESTAN C · 2020 to 2024
$3.1MEmpowering gene discovery and accelerating clinical translation for diverse admixed populationsR01HG012869 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI Elizabeth Grace Atkinson · 2023 to 2026
$3.1MPsychosis Genetics Research in Africa: Building Capacity by Investing in PeopleR01MH120642 · NIMH · BROAD INSTITUTE, INC. · PI AKENA, DICKENS HOWARD, CHIBNIK, LORI BETH · 2019 to 2023
$3.1MGeneralizing polygenic risk prediction methods across populations for insights into psychiatric diseaseR00MH117229 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI MARTIN, ALICIA · 2020 to 2022
$724kIntegration of common, rare, and structural variation to define the genetic architecture of neuropsychiatric disordersK01MH137407 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI FU, JACK MINYANG · 2024 to 2025
$367kNHGRI NIH HHS R01 HG012869NHGRI NIH HHS U54 HG003067NHGRI NIH HHS UM1 HG008895NIMH NIH HHS K01 MH137407NIMH NIH HHS R00 MH117229NIMH NIH HHS R01 MH120642NIMH NIH HHS U01 MH125045NIMH NIH HHS U01 MH125047U.S. Department of Health & Human Services | National Institutes of Health (NIH) R00MH117229U.S. Department of Health & Human Services | National Institutes of Health (NIH) R01HG012869U.S. Department of Health & Human Services | National Institutes of Health (NIH) U54HG003067U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) K01MH137407
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
Indexed as
ExomeExome SequencingGenetic VariationGenome, HumanHigh-Throughput Nucleotide SequencingWhole Genome SequencingCost-Benefit AnalysisDNA Copy Number VariationsGene FrequencyGene LibraryGenomicsGenotypeHumansPolymorphism, Single NucleotideSequence Analysis, DNA
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