ArticleNature2026
Functional dissection of complex trait variants at single-nucleotide resolution.
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Article in Nature, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29citing papers in PubMed
–field-weighted citation impact
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Who cites it
29 citing papers in PubMed.
- Article
- Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at themedRxiv : the preprint server for health sciences · 2026Article
- The Encyclopedia of DNA Elements.bioRxiv : the preprint server for biology · 2026Article
- Identifying severe COVID-19 risk variants modulating enhancer reporter activity in lung cells.PLoS genetics · 2026Article
- Fine-tuning sequence-to-expression models on personal genome and transcriptome data.Genome biology · 2026Article
- Autoimmune non-coding variants perturb transcription factor-cofactor complex assembly linked to enhancer activity.bioRxiv : the preprint server for biology · 2026Article
- Functionally informed cis and trans proteome-wide association studies prioritize disease-critical genes.Research square · 2026Article
- In Vitro Massively Parallel Screening of Human Regulatory Elements Involved in Postcranial Skeletal Development for Differential Activity Compared to Chimpanzee.Genome biology and evolution · 2026Article
- Functionally informed cis and trans proteome-wide association studies prioritize disease-critical genes.medRxiv : the preprint server for health sciences · 2026Article
- Multi-scale dissection, compaction and derivatization of mammalian developmental enhancers.bioRxiv : the preprint server for biology · 2026Article
- Ancient DNA reveals that natural selection has upregulated the immune system over the last 10,000 years.bioRxiv : the preprint server for biology · 2026Article
- Atlas of HIV cis-regulatory elements reveals extensive transcriptional variation across clades, isolates, and within individuals.bioRxiv : the preprint server for biology · 2026Article
- Mapping the gene regulatory landscape of archaic hominin introgression in modern Papuans.PLoS genetics · 2026Article
- Integrating natural and engineered genetic variations to decode regulatory influence on blood traits.Cell reports · 2026Article
- Systematic functional dissection of germline noncoding risk variants impacting clonal hematopoiesis.bioRxiv : the preprint server for biology · 2026Article
- baal-nf identifies motif-disrupting variants that decrease transcription factor binding affinity.Genome biology · 2026Article
- Global Evaluation of Congenital Heart Disease-Associated Non-Coding Variants.Research square · 2026Article
- PRISM: ancestry-aware integration of tissue-specific genomic annotations enhances the transferability of polygenic scores.bioRxiv : the preprint server for biology · 2025Article
- A machine-learning framework to characterize functional disease architectures and prioritize disease variants.medRxiv : the preprint server for health sciences · 2025Article
- Addressing missing context in regulatory variation across primate evolution.Current opinion in genetics & development · 2025Review
Corrections and comments
- Update of
Authors and funding
32 authors.
Layla SirajBroad Institute of Harvard and MIT, Cambridge, MA, USA.
Rodrigo I CastroThe Jackson Laboratory, Bar Harbor, ME, USA.ORCID http://orcid.org/0000-0002-9833-4169
Hannah B DeweyThe Jackson Laboratory, Bar Harbor, ME, USA.ORCID http://orcid.org/0000-0002-3009-0452
Susan KalesThe Jackson Laboratory, Bar Harbor, ME, USA.
John C ButtsThe Jackson Laboratory, Bar Harbor, ME, USA.ORCID http://orcid.org/0000-0001-9456-4509
Thanh Thanh L NguyenDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-2281-6540
Masahiro KanaiAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-5165-4408
Daniel BerenzyThe Jackson Laboratory, Bar Harbor, ME, USA.ORCID http://orcid.org/0000-0001-8695-8903
Kousuke MouriThe Jackson Laboratory, Bar Harbor, ME, USA.ORCID http://orcid.org/0000-0003-1712-6833
Qingbo S WangAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Petko P FizievIllumina Artificial Intelligence Laboratory, Illumina, San Diego, CA, USA.
Kristin TsuoAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Zachary R McCawInsitro, South San Francisco, CA, USA.ORCID http://orcid.org/0000-0002-2006-9828
Sager J GosaiBroad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-4494-7362
François AguetBroad Institute of Harvard and MIT, Cambridge, MA, USA.
Ran CuiAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-3236-4082
Irfahan KassamIllumina Artificial Intelligence Laboratory, Illumina, San Diego, CA, USA.
Jeremy McRaeIllumina Artificial Intelligence Laboratory, Illumina, San Diego, CA, USA.ORCID http://orcid.org/0000-0003-3411-9248
Christopher M VockleyBroad Institute of Harvard and MIT, Cambridge, MA, USA.
Caleb A LareauProgram in Computational and Systems Biology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID http://orcid.org/0000-0003-4179-4807
Sergey AbramovAltius Institute for Biomedical Sciences, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-3334-5334
Alexandr BoystovAltius Institute for Biomedical Sciences, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-2712-8368
Jeff VierstraAltius Institute for Biomedical Sciences, Seattle, WA, USA.ORCID http://orcid.org/0000-0001-6406-8563
Yukinori OkadaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.ORCID http://orcid.org/0000-0002-0311-8472
Alexander GusevHarvard Medical School and Dana-Farber Cancer Institute, Boston, MA, USA.ORCID http://orcid.org/0000-0002-7980-4620
Thouis R JonesBroad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-6584-9660
Eric S LanderBroad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-2662-4631
Pardis C SabetiBroad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-9843-1890
Hilary K FinucaneAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. finucane@broadinstitute.org.ORCID http://orcid.org/0000-0003-3864-9828
Steven K ReillyDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA. steven.k.reilly@yale.edu.ORCID http://orcid.org/0000-0003-3140-1483
Jacob C Ulirsch *Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. julirsch@illumina.com.ORCID http://orcid.org/0000-0002-7947-0827
Ryan Tewhey *The Jackson Laboratory, Bar Harbor, ME, USA. Ryan.Tewhey@jax.org.ORCID http://orcid.org/0000-0002-4607-8001
Funding
Comprehensive functional characterization and dissection of noncoding regulatory elements and human genetic variationUM1HG009435 · NHGRI · BROAD INSTITUTE, INC. · PI SABETI, PARDIS CHRISTINE · 2017 to 2021
$6.6MFunctional Mapping of Enhancer Conservation Between Species to Enable Mechanistic Insights into Polygenic DiseaseR35HG011329 · NHGRI · JACKSON LABORATORY · PI TEWHEY, RYAN · 2021 to 2025
$2.6MMassively Parallel Phenotypic Characterization of Non-coding Genetic VariationR00HG008179 · NHGRI · JACKSON LABORATORY · PI TEWHEY, RYAN · 2018 to 2020
$747kMassively Parallel Phenotypic Characterization of Non-coding Genetic VariationK99HG008179 · NHGRI · HARVARD UNIVERSITY · PI TEWHEY, RYAN · 2015 to 2016
$220kNHGRI NIH HHS K99 HG008179NHGRI NIH HHS R00 HG008179NHGRI NIH HHS R35 HG011329NHGRI NIH HHS UM1 HG009435
Abstract
Identifying the causal variants and mechanisms that drive complex traits and diseases remains a core problem in human genetics
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41741648What OpenQuestion holds
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Read underepoch 390
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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.