Evidence map›Paper›PMID 40166283›Full record

ArticlebioRxiv : the preprint server for biology2025

Genetic diversity and regulatory features of human-specific

Taylor D Real, Prajna Hebbar, DongAhn Yoo, Francesca Antonacci, Ivana Pačar, Mark Diekhans, Gregory J Mikol, Oyeronke G Popoola, Benjamin J Mallory, Mitchell R Vollger and 12 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 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

5 · Who and what money

Authors and funding

22 authors.

Taylor D RealDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Prajna HebbarDepartment of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.
DongAhn YooDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Francesca AntonacciDepartment of Biosciences, Biotechnology and Environment, University of Bari, Bari, 70125, Italy.
Ivana PačarDepartment of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.
Mark DiekhansUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA 95060, USA.
Gregory J MikolCollege of Natural & Agricultural Sciences, University of California, Riverside, Riverside, CA 92521, USA.
Oyeronke G PopoolaDepartment of Psychology and Neuroscience, University of North Carolina, Chapel Hill, Chapel Hill, NC 27514, USA.
Benjamin J MalloryDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Mitchell R VollgerDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0002-8651-1615
Philip C DishuckDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0003-2223-9787
Xavi GuitartDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Allison N RozanskiDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Katherine M MunsonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Kendra HoekzemaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Jane E RanchalisDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.
Shane J NephDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.
Adriana E Sedeño-CortesDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0001-7959-8970
Benedict PatenDepartment of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA 95064, USA.
Sofie R SalamaUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA 95060, USA.
Andrew B StergachisDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0002-1299-3674
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0002-8246-4014

Funding

Sequence and Assembly of Segmental DuplicationsR01HG002385 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2001 to 2026
$13.3M
Sequence-resolved structural variation of human genomesR01HG010169 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2018 to 2026
$4.5M
Dissecting the role of NOTCH2NL genes in human brain development and neurological disorders associated with chromosome 1q21.1 distal duplications and deletions.R01MH120295 · NIMH · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI SALAMA, SOFIE REDA · 2020 to 2024
$3.7M
Investigating the contribution of non-coding genetic variation to rare disordersDP5OD029630 · OD · UNIVERSITY OF WASHINGTON · PI STERGACHIS, ANDREW BEN · 2020 to 2024
$1.9M
NHGRI NIH HHS R01 HG002385NHGRI NIH HHS R01 HG010169NIH HHS DP5 OD029630NIMH NIH HHS R01 MH120295
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

gene duplicationshuman evolutionNOTCH2NOTCH2NLSegmental duplication

Identifiers

PMID40166283
PMCPMC11956922

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.