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A Draft Human Pangenome Reference - Wen-Wei Liao, Mobin Asri, Jana Ebler, Daniel Doerr, Marina Haukness, et al. (2023). Nature. https://doi.org/10.1038/s41586-023-05896-x.

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing - Stephanie A. Felker, James M.J. Lawlor, Susan M. Hiatt, Michelle L. Thompson, Donald R. Latner, et al. (2023). Genetics in Medicine. https://doi.org/10.1016/j.gim.2023.100884.

Jasmine and Iris: population-scale structural variant comparison and analysis - Melanie Kirsche, Gautam Prabhu, Rachel Sherman, Bohan Ni, Alexis Battle, et al. (2023). Nature Methods. https://doi.org/10.1038/s41592-022-01753-3.

Approaching complete genomes, transcriptomes and epi-omes with accurate long-read sequencing - Sam Kovaka, Shujun Ou, Katharine M. Jenike, Michael C. Schatz, et al. (2023). Nature Methods. https://doi.org/10.1038/s41592-022-01716-8.

The complete sequence of a human Y chromosome - Arang Rhie, Sergey Nurk, Monika Cechova, Savannah J. Hoyt, Dylan J. Taylor, et al. (2022). https://www.biorxiv.org/. https://doi.org/10.1101/2022.12.01.518724.

The Human Pangenome Project: a global resource to map genomic diversity - Ting Wang, Lucinda Antonacci-Fulton, Kerstin Howe, Heather A. Lawson, Julian K. Lucas, et al. (2022). Nature. https://doi.org/10.1038/s41586-022-04601-8.

A complete reference genome improves analysis of human genetic variation - Sergey Aganezov, Stephanie M. Yan, Daniela C. Soto, Melanie Kirsche, Samantha Zarate, et al. (2022). Science. https://doi.org/10.1126/science.abl3533.

Phylogenetic analysis of SARS-CoV-2 in Boston highlights the impact of superspreading events - Jacob E. Lemieux, Katherine J. Siddle, Bennett M. Shaw, Christine Loreth, Stephen F. Schaffner, et al. (2021). Science. https://doi.org/10.1126/science.abe3261.

The Need for a Human Pangenome Reference Sequence - Karen H. Miga, Ting Wang, et al. (2021). Annual Review of Genomics and Human Genetics. https://doi.org/10.1146/annurev-genom-120120-081921.

Error correction enables use of Oxford Nanopore technology for reference-free transcriptome analysis - Kristoffer Sahlin, Paul Medvedev, et al. (2021). Nature Communications. https://doi.org/10.1038/s41467-020-20340-8.

AnVIL Platform, Data, Tools and Components

Open-source Tools for Training Resources – OTTR - Candace Savonen, Carrie Wright, Ava M. Hoffman, John Muschelli, Katherine Cox, et al. (2022). Journal of Statistics and Data Science Education. https://doi.org/10.1080/26939169.2022.2118646.

National Human Genome Research Institute Genomic Data Science Analysis, Visualization, and Informatics Lab-Space: Reaching out to Clinicians - Jennifer L. Hall, Sally Honeycutt, Nicole Gonzalez, Anne O'Donnell-Luria, Cassy Overby Taylor, et al. (2023). Circulation: Genomic and Precision Medicine. https://doi.org/10.1161/CIRCGEN.122.003936.

Diversifying the genomic data science research community - The Genomic Data Science Community Network, et al. (2022). Genome Research. https://doi.org/10.1101/gr.276496.121.

seqr: A web‐based analysis and collaboration tool for rare disease genomics - Lynn S. Pais, Hana Snow, Ben Weisburd, Shifa Zhang, Samantha M. Baxter, et al. (2022). Human Mutation. https://doi.org/10.1002/humu.24366.

Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space (AnVIL) - Michael C. Schatz, Anthony A. Philippakis, Enis Afgan, Eric Banks, Vincent J. Carey, et al. (2022). Cell Genomics. https://doi.org/10.1101/2021.04.22.436044.

The Dockstore: enhancing a community platform for sharing reproducible and accessible computational protocols - Denis Yuen, Louise Cabansay, Andrew Duncan, Gary Luu, Gregory Hogue, et al. (2021). Nucleic Acids Research. https://doi.org/10.1093/nar/gkab346.

Orchestrating single-cell analysis with Bioconductor - Robert A. Amezquita, Aaron T. L. Lun, Etienne Becht, Vince J. Carey, Lindsay N. Carpp, et al. (2020). Nature Methods. https://doi.org/10.1038/s41592-019-0654-x.

The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2020 update - Vahid Jalili, Enis Afgan, Qiang Gu, Dave Clements, Daniel Blankenberg, et al. (2020). Nucleic Acids Research. https://doi.org/10.1093/nar/gkaa434.

Parliament2: Accurate structural variant calling at scale - Samantha Zarate, Andrew Carroll, Medhat Mahmoud, Olga Krasheninina, Goo Jun, et al. (2020). GigaScience. https://doi.org/10.1093/gigascience/giaa145.

Centers for Mendelian Genomics: A decade of facilitating gene discovery - Samantha M. Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, et al. (2021). medRxiv. https://doi.org/10.1101/2021.08.24.21261656.

Cloud bursting galaxy: federated identity and access management - Vahid Jalili, Enis Afgan, James Taylor, Jeremy Goecks, et al. (2020). Bioinformatics. https://doi.org/10.1093/bioinformatics/btz472.

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