ArticlebioRxiv : the preprint server for biology2024
A familial, telomere-to-telomere reference for human
Abstract readPreprint
In one paragraph
Article in bioRxiv : the preprint server for biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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.
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.
Who cites it
3 citing papers in PubMed.
- Genome-wide selection inference at short tandem repeats.PLoS genetics · 2025Article
- Germline mutation rates and fine-scale recombination parameters in zebra finch.PLoS genetics · 2025Article
- Unprecedented female mutation bias in the aye-aye, a highly unusual lemur from Madagascar.PLoS biology · 2025Article
Corrections and comments
- Updated by
Authors and funding
47 authors.
David PorubskyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-8414-8966
Harriet DashnowDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.ORCID 0000-0001-8433-6270
Thomas A SasaniDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.ORCID 0000-0003-2317-1374
Glennis A LogsdonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0003-2396-0656
Pille HallastThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0002-0588-3987
Michelle D NoyesDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Zev N KronenbergPacBio, Menlo Park, CA, USA.
Tom MokveldPacBio, Menlo Park, CA, USA.
Nidhi KoundinyaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Cillian NolanPacBio, Menlo Park, CA, USA.
Cody J SteelyDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.ORCID 0000-0002-5277-7319
Andrea GuarracinoGenetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.ORCID 0000-0001-9744-131X
Egor DolzhenkoPacBio, Menlo Park, CA, USA.
William T HarveyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0003-0646-7528
William J RowellDepartment of Internal Medicine, University of Kentucky College of Medicine, Lexington, KY, USA.
Kirill GrigorevBlue Marble Space Institute of Science, Seattle, WA, USA.ORCID 0000-0003-3628-0123
Thomas J NicholasDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.ORCID 0000-0002-4198-6414
Keisuke K OshimaPresent address: Department of Genetics, Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Jiadong LinDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-8116-5901
Peter EbertCore Unit Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.ORCID 0000-0001-7441-532X
W Scott WatkinsDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.ORCID 0000-0001-9105-1193
Tiffany Y LeungTerry Fox Laboratory, BC Cancer Agency, Vancouver, BC, Canada.
Vincent C T HanlonPresent address: Altos Labs, San Diego, CA, USA.
Sean McGeeDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Brent S PedersenDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.
Michael E GoldbergDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.ORCID 0000-0003-3310-6349
Hannah C HappDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.
Hyeonsoo JeongDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Katherine M MunsonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0001-8413-6498
Kendra HoekzemaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-8058-0177
Daniel D ChanTerry Fox Laboratory, BC Cancer Agency, Vancouver, BC, Canada.
Yanni WangTerry Fox Laboratory, BC Cancer Agency, Vancouver, BC, Canada.
Jordan KnuthDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Gage H GarciaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0009-0005-2383-722X
Cairbre FanslowPacBio, Menlo Park, CA, USA.
Christine LambertPacBio, Menlo Park, CA, USA.
Charles LeeThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0001-7317-6662
Joshua D SmithDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Shawn LevyHudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.ORCID 0000-0002-1369-5740
Christopher E MasonDepartment of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA.ORCID 0000-0002-1850-1642
Erik GarrisonGenetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.ORCID 0000-0003-3821-631X
Peter M LansdorpTerry Fox Laboratory, BC Cancer Agency, Vancouver, BC, Canada.
Deborah W NeklasonDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.
Lynn B JordeDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.
Aaron R QuinlanDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.
Michael A EberlePacBio, Menlo Park, CA, USA.ORCID 0000-0001-8965-1253
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-8246-4014
Funding
University of Kentucky Alzheimer's Disease Research CenterP30AG072946 · NIA · UNIVERSITY OF KENTUCKY · PI Elizabeth Rhodus · 2021 to 2026
$23.5MCTSA UM1 Program at University of UtahUM1TR004409 · NCATS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI RACHEL HESS, Jennifer Juhl Majersik · 2023 to 2026
$21.9MIdentifying and Characterizing the Full Spectrum of Haplotype-resolved Structural Variation in Human GenomesU24HG007497 · NHGRI · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI Evan Eichler, Jan Oliver Korbel · 2019 to 2026
$17.2MSequence and Assembly of Segmental DuplicationsR01HG002385 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2001 to 2026
$13.3MHuman Genetic Variation and DiseaseR35GM118335 · NIGMS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI JORDE, LYNN · 2016 to 2025
$5.1MSequence-resolved structural variation of human genomesR01HG010169 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2018 to 2026
$4.5MRevealing new short tandem repeat variation in the human population across sequencing technologies: towards rare disease diagnosis and discoveryR00HG012796 · NHGRI · UNIVERSITY OF COLORADO DENVER · PI Harriet Dashnow · 2024 to 2026
$747kHuman centromere variation and functionR00GM147352 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Glennis Amelia Logsdon · 2024 to 2026
$747kAnalysis of Somatic Mutations in Longitudinal Whole-genome Sequencing DataR00HG011657 · NHGRI · UNIVERSITY OF KENTUCKY · PI Cody Steely · 2023 to 2026
$747kRevealing new short tandem repeat variation in the human population across sequencing technologies: towards rare disease diagnosis and discoveryK99HG012796 · NHGRI · UNIVERSITY OF UTAH · PI DASHNOW, HARRIET · 2023 to 2024
$306kHuman centromere variation and functionK99GM147352 · NIGMS · UNIVERSITY OF WASHINGTON · PI LOGSDON, GLENNIS AMELIA · 2022 to 2022
$100kNCATS NIH HHS UM1 TR004409NHGRI NIH HHS K99 HG012796NHGRI NIH HHS R00 HG011657NHGRI NIH HHS R00 HG012796NHGRI NIH HHS R01 HG002385NHGRI NIH HHS R01 HG010169NHGRI NIH HHS U24 HG007497NIA NIH HHS P30 AG072946NIGMS NIH HHS K99 GM147352NIGMS NIH HHS R00 GM147352NIGMS NIH HHS R35 GM118335
Abstract
Using five complementary short- and long-read sequencing technologies, we phased and assembled >95% of each diploid human genome in a four-generation, 28-member family (CEPH 1463) allowing us to systematically assess
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
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.