ArticlebioRxiv : the preprint server for biology2026
An integrated, scaled approach to resolve TSC2 variants of uncertain significance.
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Article in bioRxiv : the preprint server for biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
23 authors.
Carina G BiarKen and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, Illinois.
Ziyu R WangDepartment of Genome Sciences, University of Washington, Seattle, WA.
Nathan D CampCenter for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA.
Daniel L HolmesDepartment of Genome Sciences, University of Washington, Seattle, WA.
Melinda K WheelockDepartment of Genome Sciences, University of Washington, Seattle, WA.
Sriram PendyalaDepartment of Genome Sciences, University of Washington, Seattle, WA.
Abby V McGeeDepartment of Genome Sciences, University of Washington, Seattle, WA.
Pankhuri GuptaDepartment of Genome Sciences, University of Washington, Seattle, WA.
Abbye E McEwenDepartment of Genome Sciences, University of Washington, Seattle, WA.
Malvika TejuraDepartment of Genome Sciences, University of Washington, Seattle, WA.
Marcy E RichardsonAmbry Genetics, Aliso Viejo, CA.
Jamie D WeyandtAmbry Genetics, Aliso Viejo, CA.
Taylor ColemanAmbry Genetics, Aliso Viejo, CA.
Ross StewartThe Institute for Experiential AI, Northeastern University, Boston, MA.
Daniel ZeibergThe Institute for Experiential AI, Northeastern University, Boston, MA.
Allyssa J VandiDepartment of Genome Sciences, University of Washington, Seattle, WA.
Samantha DawsonCenter for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA.
Predrag RadivojacThe Institute for Experiential AI, Northeastern University, Boston, MA.
Lea M StaritaDepartment of Genome Sciences, University of Washington, Seattle, WA.
Gemma L CarvillKen and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, Illinois.
Richard G JamesCenter for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA.
Douglas M FowlerDepartment of Genome Sciences, University of Washington, Seattle, WA.
Jeffrey D CalhounKen and Ruth Davee Department of Neurology, Northwestern Feinberg School of Medicine, Chicago, Illinois.ORCID 0000-0003-0554-2231
Funding
Tumor Environment and Metastasis (TEAM) Research ProgramP30CA060553 · NCI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI Devalingam Mahalingam · 1993 to 2026
$153.9MINTERDISCIPLINARY TRAINING IN GENOMIC SCIENCEST32HG000035 · NHGRI · UNIVERSITY OF WASHINGTON · PI Bruce Colston Trapnell · 1995 to 2026
$24.2MSupport for the use and evaluation of large cloud-based genomic datasets.U24HG012012 · NHGRI · STANFORD UNIVERSITY · PI Mark Bender Gerstein, Benjamin Hitz · 2021 to 2026
$23.0MSingle-cell Mapping Center for Human Regulatory Elements and Gene ActivityUM1HG012076 · NHGRI · STANFORD UNIVERSITY · PI Michael Ryan Corces, Ansuman Satpathy · 2021 to 2026
$13.8MCenter for Mouse Genomic Variation at Single Cell ResolutionUM1HG012077 · NHGRI · UNIVERSITY OF CALIFORNIA-IRVINE · PI Seyed Ali Mortazavi, BARBARA J WOLD · 2021 to 2026
$13.7MA Foundational Resource of Functional Elements, TF footprints and Gene Regulatory InteractionsUM1HG011986 · NHGRI · BROAD INSTITUTE, INC. · PI BRADLEY Evan BERNSTEIN, Jason Daniel Buenrostro · 2021 to 2026
$13.3MHigh-Throughput Functional Annotation of Gene Regulatory Elements and Variants Critical to Complex Cellular PhenotypesUM1HG012053 · NHGRI · DUKE UNIVERSITY · PI GREGORY E CRAWFORD, Charles A. Gersbach · 2021 to 2026
$10.7MStanford Center for Connecting DNA Variants to Function and PhenotypeUM1HG011972 · NHGRI · STANFORD UNIVERSITY · PI JESSE M ENGREITZ, THOMAS QUERTERMOUS · 2021 to 2026
$10.5MMultiscale functional characterization of genomic variation in human developmental disordersUM1HG011996 · NHGRI · UT SOUTHWESTERN MEDICAL CENTER · PI Gary Chung Hon, WILLIAM Lee KRAUS · 2021 to 2026
$10.5MComprehensive characterization of variants underlying heart and blood diseases with CRISPR base editingUM1HG012010 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI Daniel Evan Bauer, Luca Pinello · 2021 to 2026
$10.4MThe Center for Actionable Variant Analysis; measuring variant function at scaleUM1HG011969 · NHGRI · UNIVERSITY OF WASHINGTON · PI Douglas M Fowler, Lea Starita · 2021 to 2026
$9.9MSystematic in vivo characterization of disease-associated regulatory variantsUM1HG012003 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Michael Isaiah Love, KAREN L. MOHLKE · 2021 to 2026
$9.9MNCI NIH HHS P30 CA060553NHGRI NIH HHS T32 HG000035NHGRI NIH HHS U01 HG011952NHGRI NIH HHS U01 HG011967NHGRI NIH HHS U01 HG012009NHGRI NIH HHS U01 HG012022NHGRI NIH HHS U01 HG012039NHGRI NIH HHS U01 HG012041NHGRI NIH HHS U01 HG012047NHGRI NIH HHS U01 HG012051NHGRI NIH HHS U01 HG012059NHGRI NIH HHS U01 HG012064NHGRI NIH HHS U01 HG012069NHGRI NIH HHS U01 HG012079NHGRI NIH HHS U01 HG012103NHGRI NIH HHS U24 HG012012NHGRI NIH HHS U24 HG012070NHGRI NIH HHS UM1 HG011966NHGRI NIH HHS UM1 HG011969NHGRI NIH HHS UM1 HG011972NHGRI NIH HHS UM1 HG011986NHGRI NIH HHS UM1 HG011989NHGRI NIH HHS UM1 HG011996NHGRI NIH HHS UM1 HG012003NHGRI NIH HHS UM1 HG012010NHGRI NIH HHS UM1 HG012053NHGRI NIH HHS UM1 HG012076NHGRI NIH HHS UM1 HG012077NIH HHS S10 OD011996NIH HHS S10 OD026814
Abstract
Obtaining a precise genetic tuberous sclerosis diagnosis is a challenge as many missense
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.