- AnVIL Mailing List - lists.anvilproject.org

Submit an abstract: AnVIL Community Conference 2026
by Kate Balaconis 13 May '26

13 May '26

Dear AnVIL Community, Abstract submissions are now open for the AnVIL Community Conference 2026 (ACC2026)! Spread the word about your tool or highlight your research results with other scientists doing genomics in the cloud. Submit an abstract today for a poster or talk here: bit.ly/anvil2026-abstract. The deadline for submission is July 15. Learn more about ACC2026 at bit.ly/anvil2026. Not yet on the AnVIL Mailing List? Sign up below to stay up to date on all ACC2026 news and AnVIL announcements:👉 https://lists.anvilproject.org/lists/acc2026.lists.anvilproject.org Best regards, The AnVIL Program -- M. Kate Balaconis, PhD Data Sciences Platform Program Manager Broad Institute of MIT and Harvard 105 Broadway, Cambridge, MA 02142 kbalacon(a)broadinstitute.org

1 0

Registration is OPEN: AnVIL Community Conference 2026 (August 31 – September 1 in Cambridge, MA)
by Sofia Labrecque Nieves 05 May '26

05 May '26

Dear AnVIL Community, We are excited to announce that the AnVIL Community Conference 2026 (ACC2026) is coming to Cambridge, MA! Join us August 31 – September 1, 2026, at the Broad Institute of MIT and Harvard (415 Main St, Cambridge, MA 02142) for two days of talks, posters, and collaborative workshops in genomic data science and cloud computing. —- ACC2026 will feature: 🗣 Keynote Speakers: - Kristin Ardlie, Ph.D., Broad Institute of MIT and Harvard (GTEx) - Ben Heavner, Ph.D., University of Washington (GREGoR) 🧬 Invited Speakers: - Jill Moore, Ph.D., UMass Chan (MOHD) - Heidi Rehm, Ph.D., Broad Institute of MIT and Harvard (seqr) - Benedict Paten, Ph.D., University of California Santa Cruz (HPRC) - Vasiliki Rahimzadeh, Ph.D., Baylor College of Medicine (AI & Data Policy with AnVIL) - John Landers, Ph.D., UMass Chan (ALS Compute) 🔬 Featured Talks: New technologies & data in AnVIL, with spotlights on: - Terra—cloud platform for biomedical research - Bioconductor—open-source tools for bioinformatics - Galaxy—accessible, reproducible bioinformatics workflows - Jupyter—interactive computing environments - Dockstore—sharing and discovery of bioinformatics tools and workflows - Imputation Service—genotype imputation at scale - seqr—variant discovery for rare disease genomics - AnVIL Data Explorer—browsing and querying AnVIL datasets - DUOS—Data Use Oversight System for streamlined data access - NCPI—NIH Cloud Platform Interoperability 📊 Poster Sessions: Present your work in genomics and cloud computing. 🤝 Workshops: Get onto the AnVIL platform at our workshops where you’ll learn the basics of cloud computing for genomics research on AnVIL, explore new AI tools and technologies for analysis, and learn about using AnVIL for a variety of scientific applications. Join us for more workshop sessions to be announced soon! - AnVIL 101—Get started with the AnVIL platform - AI on AnVIL—Explore AI tools and methods in the cloud - All of Us & AnVIL Imputation Service–Leverage the largest imputation panel to date - Scientific Applications on AnVIL - More workshops coming soon! —- Registration is now open and abstract submission will open soon! - Register at bit.ly/regsiteranvil26. - Learn more at bit.ly/anvil2026. Not yet on the AnVIL Mailing List? Sign up below to stay up to date on all ACC2026 news and AnVIL announcements:👉 https://lists.anvilproject.org/lists/acc2026.lists.anvilproject.org We look forward to seeing you in Cambridge this fall! Best regards, The AnVIL Program Sofia Labrecque Nieves Senior Product Manager | Broad Institute of MIT & Harvard Email: slabrecq(a)broadinstitute.org | *LinkedIn <https://www.linkedin.com/in/sofia-labrecque-nieves-679454165/>*

1 0

Upcoming NIH Webinars: Securing NIH Controlled-Access Data on April 13 and April 14
by Natalie Kucher 08 Apr '26

08 Apr '26

Dear AnVIL Community, Please find below details for two upcoming NIH webinars that will overview NIH-controlled access data and the GDS Policy. These webinars are hosted by the NIH Office of the Chief Information Officer. These sessions will be recorded. 2026 Extramural Community Days: Securing NIH Controlled-Access Data Webinar Description: NIH invites the extramural research community to attend a two-part virtual event on security expectations and best practices for protecting NIH controlled-access data. Session Topics include: * Updates from NOT-OD-25-159 * Alignment with NIST SP 800-171 * NIH Security Best Practices * Identity Proofing requirements * Live Q&A Institutional officials, researchers, and IT/security staff involved in managing or accessing NIH controlled-access data are encouraged to attend. Link to Webinar 1 – Monday April 13th 1pm-2pm ET: https://grants.nih.gov/news-events/calendar-of-events/69c57fe362b65ebda902e… Link to Webinar 2 – Tuesday April 14th 3pm-4pm ET: https://grants.nih.gov/news-events/calendar-of-events/69c582081417ace4a30cf… American Sign Language interpreting services are available upon request. Individuals who need interpreting services and/or other reasonable accommodations to participate should contact the NIH Interpreting Office at nih(a)ainterpreting.com or Brian Braxton at brian.braxton(a)nih.gov. Requests should be made at least five business days in advance to ensure interpreter availability. Best, Natalie, on behalf of the AnVIL Team -- Natalie Kucher / Project Manager Johns Hopkins University, Department of Biology Krieger School of Arts & Sciences e: nkucher3(a)jhu.edu<mailto:nkucher3@jhu.edu> / AnVIL<https://anvilproject.org/> / Galaxy<https://galaxyproject.org/> / BioDIGS

1 0

GRADS-4C Annual Symposium for cloud-based genomic data science education
by Natalie Kucher 07 Apr '26

07 Apr '26

Dear AnVIL Community, Sharing on behalf of NHGRI and GRADS-4C, please consider attending this upcoming symposium in June 2026 on cloud-based genomic data science education. Find the agenda, speakers, and logistics information in the Symposium Packet: https://grads4c.ncat.edu/wp-content/uploads/2026/03/GRADS-4C_-2026-Symposiu…. GRADS-4C 3rd Annual Research Symposium<https://grads4c.ncat.edu/3rd-annual-research-symposium/> NHGRI is excited to invite you to join the GRADS-4C 3rd Annual Research Symposium<https://grads4c.ncat.edu/3rd-annual-research-symposium/>, a two-day event on June 8-9 in Greensboro, NC, focused on the future of cloud computing education in data science, genomics, and health. This is a great opportunity to join researchers, educators, students, and industry partners using the cloud as a classroom and student research tool, leveraging large NIH data sets and cloud platforms such as NHGRI’s AnVIL<https://anvilproject.org/> and the All of Us Researcher Workbench<https://www.researchallofus.org/data-tools/workbench/>. Theme: AI and Digital Health: Potential, Promise and Peril June 8–9, 2026 | 9:00 AM–5:00 PM Koury Convention Center | 3121 W Gate City Blvd, Greensboro, NC 27407 Registration is free for students (undergraduate & graduate) and only $25 Registration Fee for professionals (faculty/staff/post-doc/industry). A limited number of travel awards are available. For any questions related to this event, please contact Dr. Brittany Sanders (brsander(a)ncat.edu<mailto:brsander@ncat.edu>). Best, Natalie, on behalf of the AnVIL Team -- Natalie Kucher / Project Manager Johns Hopkins University, Department of Biology Krieger School of Arts & Sciences e: nkucher3(a)jhu.edu<mailto:nkucher3@jhu.edu> / AnVIL<https://anvilproject.org/> / Galaxy<https://galaxyproject.org/> / BioDIGS

1 0

Reminder: Disruption to AnVIL controlled access data if no action is taken
by Kate Balaconis 23 Mar '26

23 Mar '26

Dear AnVIL community members, This is a reminder about the changes happening *this Wednesday, March 25, 2026* for accessing controlled access data in AnVIL. To align with new NIH security requirements <https://grants.nih.gov/grants/guide/notice-files/NOT-OD-25-159.html>, all controlled access data in AnVIL will require users to authenticate with NIH’s Researcher Authentication Service (RAS) by March 25, 2026. If you have access to AnVIL controlled access data, you will be impacted if no action is taken. See here <https://support.terra.bio/hc/en-us/articles/32634034451099-RAS-Integration-…> for instructions for how to update your authentication and how to link with RAS in AnVIL powered by Terra. Please note that identity verification may be required as part of authorizing through Login.gov or ID.me. If you do NOT update your linking by March 25, 2026, you may anticipate the following impacts: - Interruption to AnVIL data access until you complete the update. - Workflows and jobs that are running on AnVIL controlled access will fail. To avoid these impacts, we highly recommend you update to RAS linking in Terra and/or avoid running workflows and jobs over this date if you cannot update in time. We can appreciate the impact that this has on our users and we thank you for your patience and understanding during this time. Please reach out to support(a)terra.bio if you have any questions. With best wishes, The AnVIL Team -- M. Kate Balaconis, PhD Data Sciences Platform Program Manager Broad Institute of MIT and Harvard 105 Broadway, Cambridge, MA 02142 kbalacon(a)broadinstitute.org

1 0

[AnVIL Data Release] Announcing AnVIL Release Notes for March 2026
by Kate Balaconis 11 Mar '26

11 Mar '26

Dear AnVIL users, The AnVIL team is excited to announce its March 2026 data release on the AnVIL platform as well as modifications to existing datasets on AnVIL. Please visit https://anvilproject.org/releases/2026/03/release-notes for the full list of studies and changes. If you are interested in these datasets, please submit data access requests through dbGaP. The datasets are now findable on the AnVIL Data Explorer <https://explore.anvilproject.org/datasets> for cohort building and on the AnVIL Data Library <https://duos.org/datalibrary/anvil> for dataset level search. For additional resources, please refer to finding and using AnVIL data <https://support.terra.bio/hc/en-us/articles/34594440468635-Finding-and-usin…> and https://anvilproject.org/releases. Thank you, The AnVIL Team -- M. Kate Balaconis, PhD Data Sciences Platform Program Manager Broad Institute of MIT and Harvard 105 Broadway, Cambridge, MA 02142 kbalacon(a)broadinstitute.org

1 0

Disruption to AnVIL controlled access data if no action is taken
by Kate Balaconis 25 Feb '26

25 Feb '26

Dear users of AnVIL controlled access data, To align with new NIH security requirements <https://grants.nih.gov/grants/guide/notice-files/NOT-OD-25-159.html>, all controlled access data in AnVIL will require users to authenticate with NIH’s Researcher Authentication Service (RAS) by March 25, 2026. If you have access to AnVIL controlled access data, you will be impacted if no action is taken. See here <https://support.terra.bio/hc/en-us/articles/32634034451099-RAS-Integration-…> for instructions for how to update your authentication and how to link with RAS in AnVIL powered by Terra. Please note that identity verification may be required as part of authorizing through Login.gov or ID.me. If you do NOT update your linking by March 25, 2026, you may anticipate the following impacts: - Interruption to AnVIL data access until you complete the update. - Workflows and jobs that are running on AnVIL controlled access will fail. To avoid these impacts, we highly recommend you update to RAS linking in Terra and/or avoid running workflows and jobs over this date if you cannot update in time. We can appreciate the impact that this has on our users and we thank you for your patience and understanding during this time. Please reach out to support(a)terra.bio if you have any questions. With best wishes, The AnVIL Team -- M. Kate Balaconis, PhD Data Sciences Platform Program Manager Broad Institute of MIT and Harvard 105 Broadway, Cambridge, MA 02142 kbalacon(a)broadinstitute.org

1 0

[AnVIL Data Release] Announcing AnVIL Release Notes for November 2025
by Kate Balaconis 03 Dec '25

03 Dec '25

Dear AnVIL users, The AnVIL team is excited to announce the release of the following studies below on the AnVIL platform as well as modifications to existing datasets on AnVIL. If you are interested in these datasets, please submit data access requests through dbGaP. The datasets are now findable on the AnVIL Data Explorer <https://explore.anvilproject.org/datasets> for cohort building and on the AnVIL Data Library <https://duos.org/datalibrary/anvil> for dataset level search. For additional resources, please refer to finding and using AnVIL data <https://support.terra.bio/hc/en-us/articles/34594440468635-Finding-and-usin…> and https://anvilproject.org/releases. New data releases Study Name phsID DULs Release Notes Submitter blog post Where to apply for access Link to dataset on AnVIL NHGRI GREGoR Consortium <https://gregorconsortium.org/>: Genomics Research to Elucidate the Genetics of Rare Disease phs003047.v4.p3 GRU HMB This fourth data release contains data from 10,683 participants in 4,366 families including family, pedigree and phenotype information as well as genomic data, such as short-read DNA and RNA sequencing data, are available for the majority of GREGoR participants.In this release, a subset of short-read whole genome sequencing data is uniformly processed by the GREGoR Data Coordinating Center, which is used to generate a Consortium joint callset for small variants (SNVs and Indels). Link <https://anvilproject.org/news/2025/11/04/gregor-consortium-data-release> dbGaP <https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs003…> Explorer <https://explore.anvilproject.org/datasets?filter=%5B%7B%22categoryKey%22%3A…> Data Library <https://duos.org/studies/107> Impact of Genomic Variation on Function (IGVF) Consortium <https://igvf.org/> phs003472.v1.p1 HMB, GRU-PUB, Mouse This IGVF consortium data release encompasses both human and mouse single-cell genome and transcriptome studies. The human component comprises 95 single-cell multiome or single-cell RNA sequencing studies featuring 89 biological samples derived from 50 human donors across 4 distinct tissue/organ types. The release includes Illumina single-cell ATAC-seq and RNA-seq data, along with downstream analyses characterizing chromatin states, transcriptome, transcription factor activity, and mitochondrial DNA across diverse biological contexts. The mouse component consists of 309 datasets generated using Illumina and Nanopore single-cell RNA sequencing technologies, representing 16 different tissue and organ types collected from 183 mice spanning 16 distinct strains. The release also provides comprehensive cell type annotations across strains and tissues/organs based on the single-cell RNA sequencing data. N/A dbGaP <https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs003…> Explorer <https://explore.anvilproject.org/datasets?filter=%5B%7B%22categoryKey%22%3A…> Data Library <https://duos.org/studies/191> OurHealth - Cardiovascular Disease in South Asians <https://ourhealthstudy.org/> phs003821.v1.p1 GRU The first release includes self-reported basic demographics, anthropometric traits, cardiometabolic outcomes, and Blended Genome-Exome (BGE) sequencing data on 621 study participants. Link <https://anvilproject.org/news/2025/11/04/our-health-study-release> dbGaP <https://dbgap.ncbi.nlm.nih.gov/beta/study/phs003821.v1.p1/#study> Explorer <https://explore.anvilproject.org/datasets?filter=%5B%7B%22categoryKey%22%3A…> Data Library <https://duos.org/studies/203> Assessment of Complex Chromosomal Changes in De-Identified Cell Lines phs004000.v1.p1 GRU The dataset includes 16 individuals from LCL or fibroblast sources. All samples have Illumina WGS sequence data and 8 samples have PacBio WGS sequencing completed. Link <https://anvilproject.org/news/2025/11/04/complex-chromosomal-changes-involv…> dbGaP <https://dbgap.ncbi.nlm.nih.gov/beta/study/phs004000.v1.p1/> Explorer <https://explore.anvilproject.org/datasets?filter=%5B%7B%22categoryKey%22%3A…> Data Library <https://duos.org/studies/200> Center for Common Disease Genomics [CCDG] - Cardiovascular: Genetic and Phenotypic Determinants of Blood Pressure and Other Cardiovascular Risk Factors phs002236.v1.p1 DS-DCCA-NPU-MDS This release contains 2,150 WES samples and 2,081 array samples. N/A dbGaP <https://dbgap.ncbi.nlm.nih.gov/beta/study/phs002236.v1.p1/#study> Explorer <https://explore.anvilproject.org/datasets?filter=%5B%7B%22categoryKey%22%3A…> Data Library <https://duos.org/studies/127> METSIM (METabolic Syndrome In Men) Study phs000743.v4.p1 (parent) phs001579.v1.p1 (child) HMB-IRB Please refer to the dbGaP study page for more information. N/A dbGaP <https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001…> Explorer <https://explore.anvilproject.org/datasets?filter=%5B%7B%22categoryKey%22%3A…> Data Library <https://duos.org/studies/202> Data modifications to existing releases Study Name phsID DULs Release Notes NHGRI GREGoR Consortium <https://gregorconsortium.org/>: Genomics Research to Elucidate the Genetics of Rare Disease phs003047.v3.p2 GRU HMB Errata: Two issues have been identified in this release. Reach out to anvil-data(a)broadinstitute.org for more information. AnVIL will be deleting the erroneous files by the second week of December. Impact of Genomic Variation on Function (IGVF) Consortium <https://igvf.org/> phs003472.v1.p1 HMB-MDS Errata: Two files in the current dataset were found to have errors and were replaced in this data release. Reach out to anvil-data(a)broadinstitute.org for more information. Center for Common Disease Genomics [CCDG] - Neuropsychiatric: Epilepsy: Epi25 Consortium <http://epi-25.org> phs001489.v4.p2 DS-EPSBACID-MDS-RD Additional data was delivered to AnVIL_CCDG_Broad_NP_Epilepsy_AUSAUS_EP_BA_CN_ID_MDS_GSA-MD that was not included in the original release. Genomic Answers for Kids <https://www.childrensmercy.org/childrens-mercy-research-institute/studies-a…> phs002206.v4.p1 DS-PEDD-IRB The below workspaces and snapshots from version 4 were deleted since this data is now consolidated and duplicated in version 5 of the dataset (links to version 5: Explorer <https://explore.anvilproject.org/datasets?filter=%5B%7B%22categoryKey%22%3A…> /Data Library <https://duos.org/studies/106>). AnVIL_CMH_GAFK_IsoSeq AnVIL_CMH_GAFK_GS_long_read AnVIL_CMH_GAFK_PacBio_methyl_tagged AnVIL_CMH_GAFK_WGS AnVIL_CMH_GAFK_ES AnVIL_CMH_GAFK_IlluminaGSA AnVIL_CMH_GAFK_GS-linked-read AnVIL_CMH_GAFK_MGI AnVIL_CMH_GAFK_10X-Genomics AnVIL_CMH_GAFK_WGBS AnVIL_CMH_GAFK_scRNA AnVIL_CMH_GAFK_SCATAC Developmental enhancements and bug fixes Enhancement/Fix Datasets Affected Datasets with data submitter provided file inventory tables that did not include a column for file size resulted in there being files present in the Data Explorer with a null file size. This caused issues with indexing and degraded the user experience in the Data Explorer. These datasets have been updated with the proper file sizes in place. AnVIL_ENCORE_293T ; AnVIL_ENCORE_RS293 (phs003018.v1.p1 NRES) A small number of datasets included files with a file size of 0 bytes. These are primarily things like empty stderr files from workflows and other low value files of the like. These files were removed from indexing and the Data Explorer, but kept in the original tables for the datasets. AnVIL_HPRC (NRES) AnVIL_T2T (NRES) AnVIL_CCDG_Broad_CVD_EOCAD_PartnersBiobank_HMB_WES (phs002018 HMB-MDS) AnVIL_CCDG_Broad_NP_Epilepsy_USAMON_GRU_WES (phs001489.v4.p2 GRU) AnVIL_GREGoR_R01_GRU (phs003047.v1.p1 GRU) AnVIL_GTEx_public_data (phs000424 NRES) AnVIL_MAS_ISO_seq (phs003200.v1.p1 DS-MSC-MDS) AnVIL_NIMH_Broad_ConvergentNeuro_McCarroll_Eggan_CIRM_GRU_VillageData (phs002032 GRU) True duplicate records were identified in the file_inventory table (an AnVIL-generated table to support indexing) for the GTEx v10 snapshot. These duplicate records have been removed. AnVIL_GTEx_v10_hg38 (phs000424 GRU) Durable DRS URIs were not properly being leveraged in recently updated snapshots. New snapshots have been issued leveraging durable DRS URIs. Note that this was released as a post-release patch to anvil11 (Q3 2025 release). AnVIL_ENCORE_293T; AnVIL_ENCORE_RS293 (phs003018.v1.p1 NRES) AnVIL_MAGE (NRES) -- M. Kate Balaconis, PhD Data Sciences Platform Program Manager Broad Institute of MIT and Harvard 105 Broadway, Cambridge, MA 02142 kbalacon(a)broadinstitute.org

1 0

AnVIL Demos: AnVIL meets the new security requirements under the Genomic Data Sharing Policy on November 19, 2025
by Natalie Kucher 05 Nov '25

05 Nov '25

Dear AnVIL Community, Join us for the next AnVIL Demo covering the topic: "AnVIL meets the new security requirements under the Genomic Data Sharing Policy.” We’ll meet on Wednesday, November 19 at 10 am ET on Zoom. On October 4, 2024, NIH updated its Genomic Data Sharing Policy, mandating that starting January 25, 2025, researchers must store and analyze NIH controlled‑access data on NIST SP 800‑171 (or equivalent) compliant systems. During this demo, the AnVIL security team will provide a brief overview for how AnVIL meets these requirements and answer questions from the community. ✏️ Sign up for this and future Demos: http://bit.ly/anvil-demos Learn more about this demo and find future demos at the AnVIL Support Forum: https://help.anvilproject.org/t/anvil-demos-anvil-meets-the-new-security-re…. Best, Natalie -- Natalie Kucher / Project Manager Johns Hopkins University, Department of Biology Krieger School of Arts & Sciences e: nkucher3(a)jhu.edu<mailto:nkucher3@jhu.edu> / AnVIL<https://anvilproject.org/> / Galaxy<https://galaxyproject.org/> / GDSCN<https://www.gdscn.org/>

1 0

[AnVIL Data Release] AnVIL Release Notes for August 2025
by Kate Balaconis 27 Aug '25

27 Aug '25

Dear AnVIL users, The AnVIL team is excited to announce the release of the following studies below on the AnVIL platform. If you are interested in these datasets, please submit data access requests through dbGaP. The datasets are now findable on the AnVIL Data Explorer <https://explore.anvilproject.org/datasets> for cohort building and on the AnVIL Data Library <https://duos.org/datalibrary/anvil> for dataset level search. For additional resources for how to find datasets on AnVIL, please refer to the AnVIL Data Explorer Guide <https://explore.anvilproject.org/guides> or DUOS Data Library user guide <https://support.terra.bio/hc/en-us/articles/31034718333851-How-to-access-an…> . Study Name phsID DULs Release Notes Submitter blog post Where to apply for access Link to dataset on AnVIL Common Fund (CF) Genotype-Tissue Expression Project <https://www.gtexportal.org/home/aboutAdultGtex> (GTEx) phs000424.v10.p2 GRU Sample and subject annotation files were added. Link <https://anvilproject.org/news/2024/11/20/gtexv10> dbGaP <https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000…> Data Workspace <https://anvil.terra.bio/#workspaces/anvil-datastorage/AnVIL_GTEx_v10_hg38> NHGRI GREGoR Consortium <https://gregorconsortium.org/>: Genomics Research to Elucidate the Genetics of Rare Disease phs003047.v3.p2 GRU HMB The new data release consists of 8,840 participants and more than 3,000 families. Included in the release are short-read whole exomes and genomes, long-read whole genomes, and RNA-seq files. Link <https://anvilproject.org/news/2025/07/25/gregor-consortium-data-release> dbGaP <https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs003…> Explorer <https://explore.anvilproject.org/datasets?filter=%5B%7B%22categoryKey%22%3A…> Data Library <https://duos.org/studies/107> Impact of Genomic Variation on Function (IGVF) Consortium <https://igvf.org/> phs003472.v1.p1 HMB-MDS This first release contains data from seven participants and includes assay data such as single-cell ATAC-seq, single-cell RNA sequencing, and SHARE-seq data. N/A dbGaP <https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs003…> Explorer <https://explore.anvilproject.org/datasets?filter=%5B%7B%22categoryKey%22%3A…> Data Library <https://duos.org/studies/191> Genomic Answers for Kids <https://www.childrensmercy.org/childrens-mercy-research-institute/studies-a…> phs002206.v5.p1 DS-PEDD-IRB The new data release includes over 2,000 long-read genome sequences and 12,000 short-read genome and exome analyses, nearly 400 snapshots of patient transcriptomes and epigenomes in individual cells using single-cell RNA (scRNA) and sc open chromatin (scATAC), over 3,000 bulk whole genome bisulphite genome sequences for methylome interpretation, and over 200 functional assessments in available patient tissues using full length cDNA sequences by IsoSeq (PacBio) methodology. This release also consolidates data from release 4 and 5 into a single dataset for exporting. Link <https://anvilproject.org/news/2025/08/25/ga4k-version-5-data-release> dbGaP <https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs002…> Explorer <https://explore.anvilproject.org/datasets?filter=%5B%7B%22categoryKey%22%3A…> Data Library <https://duos.org/studies/106> Center for Common Disease Genomics [CCDG] - Neuropsychiatric: Epilepsy: Epi25 Consortium <http://epi-25.org> phs001489.v4.p2 32 consent codes. For a full list, please see dbGaP study page <https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001…> . This new data release includes whole genome genotype data on over 30,000 Epi25 participants, generated using Illumina’s Infinium GSA-MD v1 platform. Additionally, detailed clinical phenotypes related to epilepsy diagnosis are now available for both the GSA data as well as the whole exome sequencing (WES) data previously released in v3. Link <https://anvilproject.org/news/2025/08/25/epi25-version-4-data-release> dbGaP <https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001…> Explorer <https://explore.anvilproject.org/datasets?filter=%5B%7B%22categoryKey%22%3A…> Data Library <https://duos.org/studies/111> CARD Consortium <https://card.nih.gov/research-programs/long-read-sequencing>: North American Brain Expression Consortium phs001300.v5.p1 (parent) phs003181.v2.p1 (child) GRU This new release includes 206 samples with haplotype-resolved assemblies, structural and small variant calls, as well as methylation calls for neurologically ‘normal’ prefrontal cortex ( and cortex ) brain tissue samples. Link <https://anvilproject.org/news/2025/08/25/card-data-release-2> dbGaP <https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001…> Explorer <https://explore.anvilproject.org/datasets?filter=%5B%7B%22categoryKey%22%3A…> Data Library <https://duos.org/studies/73> CARD Consortium <https://card.nih.gov/research-programs/long-read-sequencing>: Gene Expression in Postmortem DLPFC and Hippocampus from Schizophrenia and Mood Disorders phs000979.v4.p2 GRU This new release includes 155 samples with haplotype-resolved assemblies, structural and small variant calls, as well as methylation calls for neurologically ‘normal’ prefrontal cortex ( and cortex ) brain tissue samples. Link <https://anvilproject.org/news/2025/08/25/card-data-release-2> dbGaP <https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000…> Explorer <https://explore.anvilproject.org/datasets?filter=%5B%7B%22categoryKey%22%3A…> Data Library <https://duos.org/studies/190> PAGE: The Charles Bronfman Institute for Personalized Medicine (IPM) BioMe Biobank phs000925.v1.p1 GRU Please see dbGaP <https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000…> for more information. N/A dbGaP <https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000…> Explorer <https://explore.anvilproject.org/datasets?filter=%5B%7B%22categoryKey%22%3A…> Data Library <https://duos.org/studies/77> PAGE: Multi-Ethnic Cohort Study phs000220.v2.p2 GRU Please see dbGaP <https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000…> for more information. N/A dbGaP <https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000…> Explorer <https://explore.anvilproject.org/datasets?filter=%5B%7B%22categoryKey%22%3A…> Data Library <https://duos.org/studies/78> PAGE: Global Reference Panel phs001033.v1.p1 GRU Please see dbGaP <https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000…> for more information. N/A dbGaP <https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001…> Explorer <https://explore.anvilproject.org/datasets?filter=%5B%7B%22categoryKey%22%3A…> Data Library <https://duos.org/studies/76> In addition to the data released above, the following are developmental enhancements made to the AnVIL data: - Inconsistencies in snapshot naming conventions that were causing issues with indexing for the AnVIL Data Explorer have been resolved. - MD5s for file metadata are now consistently encoded to Base64 to be consistent with what is provided in the GCS metadata. - Values that were causing issues importing data from DUOS or the AnVIL Data Explorer into Workspaces have been corrected. - The presence of double-pipes that was causing issues with indexing certain datasets for the AnVIL Data Explorer has been resolved. Thank you, The AnVIL Team -- M. Kate Balaconis, PhD Data Sciences Platform Program Manager Broad Institute of MIT and Harvard 105 Broadway, Cambridge, MA 02142 kbalacon(a)broadinstitute.org

1 0