Evidence map›Paper›PMID 41256123›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Population-scale Long-read Sequencing in the

Kiran V Garimella, Qiuhui Li, Julie Wertz, Samuel K Lee, Fabio Cunial, Yongqing Huang, Yulia Mostovoy, Ryan Lorig-Roach, Adam English, Hang Su and 34 more

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

44 authors.

Kiran V GarimellaData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-6212-5736
Qiuhui LiDepartment of Computer Science, Johns Hopkins University, Baltimore MD, USA.ORCID 0009-0004-6740-8040
Julie WertzDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0009-0000-3747-3221
Samuel K LeeData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-6733-0547
Fabio CunialData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-0282-5738
Yongqing HuangData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-5098-8219
Yulia MostovoyCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-9544-3538
Ryan Lorig-RoachData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Adam EnglishHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0003-2451-4375
Hang SuData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Shawn LevyHudsonAlpha Institute for Biotechnology.
Donna M MuznyHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-3055-0359
Chelsea BerngruberHudsonAlpha Institute for Biotechnology.
Matt C DanziDepartment of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.ORCID 0000-0003-1568-5965
William T HarveyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0003-0646-7528
Emily L LaPlanteData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-4044-7187
Karynne PattersonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-0853-1231
Allison N RozanskiDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Sophie SchwartzData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-3989-0664
Beri ShifawData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Yuanyuan WangVanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0009-0004-5561-2079
Isaac WongDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0003-4877-5748
Isaac R L XuDepartment of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Shadi ZaheriData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Stephan ZuchnerDepartment of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Xinchang ZhengHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-5739-861X
Shannon Dugan-PerezHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0003-1482-816X
Michal IzydorczykHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0003-3461-1224
Heer MehtaHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-5357-2112
Richard A GibbsHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-1356-5698
Lee LichtensteinData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Namrata GuptaBroad, Color, and Mass General Brigham Laboratory for Molecular Medicine, Boston, MA, USA.
Niall LennonBroad, Color, and Mass General Brigham Laboratory for Molecular Medicine, Boston, MA, USA.ORCID 0000-0002-2874-7371
Stacey GabrielBroad, Color, and Mass General Brigham Laboratory for Molecular Medicine, Boston, MA, USA.
All of Us Research Program Long Read Working Group
Winston TimpDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Kimberly F DohenyDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0001-8806-5738
Tara DutkaAll of Us Research Program, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-5064-6211
Anjene MusickAll of Us Research Program, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-7770-299X
Chia-Lin WeiDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-6820-0461
Fritz J SedlazeckHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-6040-2691
Michael C SchatzDepartment of Computer Science, Johns Hopkins University, Baltimore MD, USA.ORCID 0000-0002-4118-4446
Michael E TalkowskiCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-2889-0992
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-8246-4014

Funding

The Broad-LMM-Color Genome Center for All of UsOT2OD002750 · OD · BROAD INSTITUTE, INC. · PI GABRIEL, STACEY, REHM, HEIDI L · 2018 to 2023
$264.7M
The Baylor-Hopkins Clinical Genomics Center for All of UsOT2OD002751 · OD · BAYLOR COLLEGE OF MEDICINE · PI BOERWINKLE, ERIC A., DOHENY, KIMBERLY F · 2018 to 2023
$152.8M
Broad-Color: The Genome Center for the Future of All of UsOT2OD038121 · OD · BROAD INSTITUTE, INC. · PI Stacey Gabriel, Niall John Lennon · 2024 to 2026
$80.1M
Northwest Genomics Center for All of UsOT2OD002748 · OD · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN, JARVIK, GAIL PAIRITZ · 2018 to 2023
$65.4M
New York Center for Collaborative Research In Common Disease Genomics: Genome Aggregation and Joint Variant Calling for CCDG Freeze2UM1HG008901 · NHGRI · NEW YORK GENOME CENTER · PI MANIATIS, THOMAS P, WIGLER, MICHAEL H · 2016 to 2020
$56.6M
Population-Scale Clinical GenomicsOT2OD027070 · OD · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI GRIMWOOD, JANE · 2019 to 2022
$9.6M
Sequence-resolved structural variation of human genomesR01HG010169 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2018 to 2026
$4.5M
Northwest Genomics Center for All of UsOT2OD038111 · OD · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN, EMPEY, PHILIP EARLE · 2024 to 2025
$3.7M
All of Us at the Baylor-Hopkins Clinical Genome CenterOT2OD038122 · OD · BAYLOR COLLEGE OF MEDICINE · PI BOERWINKLE, ERIC A., DOHENY, KIMBERLY F · 2024 to 2025
$3.7M
Creating an advanced multi-ancestral resource and tools for short tandem repeat analysis in the AOURP researcher workbenchR21HG013397 · NHGRI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI DANZI, MATTHEW CHRISTOPHER, ZUCHNER, STEPHAN · 2023 to 2023
$422k
NHGRI NIH HHS R01 HG010169NHGRI NIH HHS R21 HG013397NHGRI NIH HHS UM1 HG008901NIH HHS OT2 OD002748NIH HHS OT2 OD002750NIH HHS OT2 OD002751NIH HHS OT2 OD027070NIH HHS OT2 OD038111NIH HHS OT2 OD038121NIH HHS OT2 OD038122
6 · The paper itself

Abstract

The

Identifiers

PMID41256123
PMCPMC12622093

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.