{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"medRxiv"}],"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T04:58:31Z","timestamp":1792213111886,"version":"4.4.0"},"posted":{"date-parts":[[2026,5,4]]},"group-title":"Neurology","reference-count":119,"publisher":"openRxiv","license":[{"start":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T00:00:00Z","timestamp":1777852800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.medrxiv.org\/about\/FAQ#license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2026,5,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                <jats:p>\n                  Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with substantial genetic and clinical heterogeneity that impedes therapeutic development. Large-scale multi-tissue genomic resources have transformed the study of neuropsychiatric and neurodegenerative diseases, but no equivalent resource exists for ALS. Here we present the full NYGC ALS Consortium dataset, combining whole-genome sequencing from 4,746 donors and bulk RNA-seq from 2,574 samples across 8 brain and spinal cord regions from 695 donors across the ALS disease spectrum. Our catalogue of small variants, structural variants, and short tandem repeats identified likely pathogenic mutations in 15.6% of ALS cases. Gene expression and mRNA splicing analysis across 5 major tissues reveals shared and region-specific features, highlighting microglial and T-cell dysregulation in the spinal cord. Mapping the genetic regulation of expression and splicing across tissues identified associations with 6 ALS risk loci, whereas allele-specific rare variant analysis detected expression effects for\n                  <jats:italic>C9orf72<\/jats:italic>\n                  and\n                  <jats:italic>OPTN<\/jats:italic>\n                  . All data are immediately publicly available.\n                <\/jats:p>","DOI":"10.64898\/2026.04.29.26350889","type":"posted-content","created":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T16:15:17Z","timestamp":1777911317000},"source":"Crossref","is-referenced-by-count":3,"title":["The New York Genome Center ALS Consortium resource integrates postmortem tissue transcriptomics and whole genome sequencing to empower biological discovery"],"prefix":"10.64898","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6274-6620","authenticated-orcid":false,"given":"Jack","family":"Humphrey","sequence":"first","affiliation":[{"name":"Department of Genetics and Genomic Sciences, Nash Family Department of Neuroscience & Friedman Brain Institute, Ronald M. Loeb Center for Alzheimer\u2019s Disease, Icahn Genomics Institute, Estelle and Daniel Maggin Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-4934-184X","authenticated-orcid":false,"given":"Ali","family":"Oku","sequence":"additional","affiliation":[{"name":"New York Genome Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9118-1032","authenticated-orcid":false,"given":"Marta","family":"Byrska-Bishop","sequence":"additional","affiliation":[{"name":"New York Genome Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5112-5880","authenticated-orcid":false,"given":"Anna O.","family":"Basile","sequence":"additional","affiliation":[{"name":"New York Genome Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-2057-4514","authenticated-orcid":false,"given":"Uday S.","family":"Evani","sequence":"additional","affiliation":[{"name":"New York Genome Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0989-7806","authenticated-orcid":false,"given":"Andr\u00e9","family":"Corvelo","sequence":"additional","affiliation":[{"name":"New York Genome Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4222-7484","authenticated-orcid":false,"given":"Alex","family":"Tokolyi","sequence":"additional","affiliation":[{"name":"New York Genome Center, New York, NY, USA"},{"name":"Department of Computer Science, Columbia University, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1501-4881","authenticated-orcid":false,"given":"Kailash","family":"BP","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences, Nash Family Department of Neuroscience & Friedman Brain Institute, Ronald M. 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