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Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism.
Kim SW, Lee H, Song DY, et al. Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism. Genome medicine. 2024;16(1):114. doi:10.1186/s13073-024-01385-6DOIGoogle ScholarPubMed
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FinaleMe: Predicting DNA methylation by the fragmentation patterns of plasma cell-free DNA.
Liu Y, Reed SC, Lo C, et al. FinaleMe: Predicting DNA methylation by the fragmentation patterns of plasma cell-free DNA. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.01.02.573710DOIGoogle ScholarPubMed
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Gene-based association study of rare variants in children of diverse ancestries implicates TNFRSF21 in the development of allergic asthma.
Clay S, Alladina J, Smith NP, et al. Gene-based association study of rare variants in children of diverse ancestries implicates TNFRSF21 in the development of allergic asthma. The Journal of allergy and clinical immunology. 2023. doi:10.1016/j.jaci.2023.10.023DOIGoogle ScholarPubMed
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Genomic analysis identifies risk factors in restless legs syndrome.
Akçimen F, Chia R, Saez-Atienzar S, et al. Genomic analysis identifies risk factors in restless legs syndrome. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.12.19.23300211DOIGoogle ScholarPubMed
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Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia.
Zhao B, Nguyen MA, Woo S, Kim J, Yu TW, Lee EA. Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia. American journal of human genetics. 2023. doi:10.1016/j.ajhg.2023.09.008PubMedDOIGoogle Scholar
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Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study.
Wang Y, Selvaraj MS, Li X, et al. Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study. American journal of human genetics. 2023;110(10):1704-1717. doi:10.1016/j.ajhg.2023.09.003DOIGoogle ScholarPubMed
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Linked-read based analysis of the medulloblastoma genome.
Zwaig M, Johnston MJ, J Y Lee J, et al. Linked-read based analysis of the medulloblastoma genome. Frontiers in oncology. 2023;13:1221611. doi:10.3389/fonc.2023.1221611DOIGoogle ScholarPubMed
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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Sanchis-Juan A, Megy K, Stephens J, et al. Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders. American journal of human genetics. 2023;110(8):1343-1355. doi:10.1016/j.ajhg.2023.07.007DOIGoogle ScholarPubMed
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Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Zanovello M, Ibáñez K, Brown AL, et al. Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population. Brain : a journal of neurology. 2023. doi:10.1093/brain/awad050DOIGoogle ScholarPubMed
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In March of 2020, Broad Institute converted a clinical genetics processing lab into a large-scale COVID-19 testing facility in less than two weeks.

We've screened more than 1,275 cancer cell lines as part of the Cancer Dependency Map (DepMap).

Broad Genomics Platform sequences a whole human genome every four minutes.

More than 11,000 individuals living with cancer in the United States and Canada have partnered with Count Me In to share their experiences and help accelerate cancer research.

The Drug Repurposing Hub is one of the most comprehensive and up-to-date biologically annotated collections of FDA-approved compounds in the world. Researchers anywhere can explore more than 6,000 drugs in the hub and search for possible new uses for them to jump-start new drug discovery.

In 2021, our sustainability efforts sent more than 80 percent of waste from the Genomics Platform to either a recycling facility or to an incineration plant that generates electricity.

Through Broad's Scientists in the Classroom program, Broad researchers visit every 8th grade classroom in Cambridge each year to talk about genetics and evolution.

Every summer, 18 high school students spend six weeks at Broad working side-by-side with mentors on cutting-edge research.

In November 2022, Broad’s Genomics Platform sequenced its 500,000th whole human genome, a mere four years after sequencing its 100,000th.

By the end of 2022, Broad’s COVID-19 testing lab had processed more than 37 million tests.

Working with Addgene, Broad Institute has shared CRISPR genome-editing reagents with researchers at more than 3,200 institutions in 76 countries.

The NeuroGAP-Psychosis project, a collaboration between the Stanley Center for Psychiatric Research and Harvard T.H. Chan School of Public Health to study the genetics of severe mental illness, has recruited more than 42,000 participants in Ethiopia, Kenya, Uganda, and South Africa.

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