ArticleNature2025
Human de novo mutation rates from a four-generation pedigree reference.
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In one paragraph
Article in Nature, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers.
0numbers the graph read from it
0cells of the map it votes in
81citing 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
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Who cites it
81 citing papers in PubMed.
- Point mutations and complex variants impact gene expression and addiction-related behaviors in Heterogeneous Stock rats.bioRxiv : the preprint server for biology · 2026Article
- EstimatingbioRxiv : the preprint server for biology · 2026Article
- Mechanisms underlying disease-causing variants in promoters and enhancers.Nature genetics · 2026Review
- Maternal age as a driver of genome instability: mechanisms linking aneuploidy, mutagenesis and mitochondrial dysfunction.Archives of toxicology · 2026Review
- Toward the clinical application of long-read sequencing in repeat-expansion disorders.Nature genetics · 2026Review
- Review
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- Sex-Specific Landscapes of Crossover and Noncrossover Recombination in Coppery Titi Monkeys (Plecturocebus cupreus).Genome biology and evolution · 2026Article
- Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references.European journal of human genetics : EJHG · 2026Review
- AScience advances · 2026Article
- Article
- Complete chromosome 21 centromere sequencing of families with Down syndrome.American journal of human genetics · 2026Article
- Near-perfect genome sequencing in medical genetics.Nature genetics · 2026Review
- High Rate of Mutation and Efficient Removal by Selection of Structural Variants From Natural Populations of Caenorhabditis Elegans.Genome biology and evolution · 2026Article
- HOROSCOPE: Decoding human centromere architecture from short reads usingbioRxiv : the preprint server for biology · 2026Article
- Aardvark: sifting through differences in a mound of variants.Genome biology · 2026Article
- Tandem repeat variation within and between species reveals signatures of selection in humans and chimpanzees.bioRxiv : the preprint server for biology · 2026Article
- A global map for introgressed structural variation and selection in humans.Science (New York, N.Y.) · 2026Article
- Inference of elevated mutation rates and variant effects using 700k exomes.bioRxiv : the preprint server for biology · 2026Article
21 more citing papers are in PubMed but not listed here.
Corrections and comments
- Update of
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 Dashnow *Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.ORCID 0000-0001-8433-6270
Thomas A Sasani *Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.
Glennis A Logsdon *Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0003-2396-0656
Pille Hallast *The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID 0000-0002-0588-3987
Michelle D Noyes *Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Zev N Kronenberg *PacBio, Menlo Park, CA, USA.
Tom Mokveld *PacBio, Menlo Park, CA, USA.ORCID 0000-0003-1905-5442
Nidhi KoundinyaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0009-0008-7155-1287
Cillian NolanPacBio, Menlo Park, CA, USA.
Cody J SteelyDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.
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.ORCID 0000-0002-3296-0677
William T HarveyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
William J RowellPacBio, Menlo Park, CA, USA.ORCID 0000-0002-7422-1194
Kirill GrigorevSpace Biosciences Research Branch, NASA Ames Research Center, Moffett Field, CA, USA.
Thomas J NicholasDepartment 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.
Keisuke K OshimaDepartment 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.
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.
Tiffany Y LeungTerry Fox Laboratory, BC Cancer Agency, Vancouver, British Columbia, Canada.
Vincent C T HanlonTerry Fox Laboratory, BC Cancer Agency, Vancouver, British Columbia, Canada.ORCID 0000-0002-2008-8957
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.ORCID 0000-0003-1786-2216
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.
Daniel D ChanTerry Fox Laboratory, BC Cancer Agency, Vancouver, British Columbia, Canada.
Yanni WangTerry Fox Laboratory, BC Cancer Agency, Vancouver, British Columbia, 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 LevyElement Biosciences, San Diego, CA, USA.
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, British Columbia, Canada.ORCID 0000-0001-7435-1071
Deborah W NeklasonDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.ORCID 0000-0002-4546-7080
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.ORCID 0000-0003-1756-0859
Michael A EberlePacBio, Menlo Park, CA, USA.
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA. ee3@uw.edu.ORCID 0000-0002-8246-4014
Funding
University of Kentucky Alzheimer's Disease Research CenterP30AG072946 · NIA · UNIVERSITY OF KENTUCKY · PI Elizabeth Rhodus · 2021 to 2026
$23.5MIdentifying 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
$13.3MSporadic Mutations and Autism Spectrum DisordersR01MH101221 · NIMH · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 2013 to 2025
$9.2MHuman 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
$4.5MCTSA RC2 Program at University of Utah: A Translational Platform for Rapid Genomic MedicineRC2TR004391 · NCATS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI PAUL ESTABROOKS, MARTIN TRISTANI-FIROUZI · 2023 to 2026
$3.1MTraining Program in Genomic MedicineT32HG008962 · NHGRI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Lynn Jorde, Aaron R Quinlan · 2016 to 2026
$3.0MAnalysis of Somatic Mutations in Longitudinal Whole-genome Sequencing DataR00HG011657 · NHGRI · UNIVERSITY OF KENTUCKY · PI Cody Steely · 2023 to 2026
$747kHuman centromere variation and functionR00GM147352 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Glennis Amelia Logsdon · 2024 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 RC2 TR004391NHGRI NIH HHS K99 HG012796NHGRI NIH HHS R00 HG011657NHGRI NIH HHS R01 HG002385NHGRI NIH HHS R01 HG010169NHGRI NIH HHS T32 HG008962NHGRI NIH HHS U24 HG007497NIA NIH HHS P30 AG072946NIGMS NIH HHS K99 GM147352NIGMS NIH HHS R00 GM147352NIGMS NIH HHS R35 GM118335NIMH NIH HHS R01 MH101221
Abstract
Understanding the human de novo mutation (DNM) rate requires complete sequence information
Indexed as
Genome, HumanMutation RatePedigreeCentromereChromosomes, Human, YFemaleGerm-Line MutationHumansINDEL MutationMalePolymorphism, Single Nucleotide
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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.