Evidence map›Paper›PMID 39653420›Full record

ArticleGenome research2024

Resolving the chromatin impact of mosaic variants with targeted Fiber-seq.

Stephanie C Bohaczuk, Zachary J Amador, Chang Li, Benjamin J Mallory, Elliott G Swanson, Jane Ranchalis, Mitchell R Vollger, Katherine M Munson, Tom Walsh, Morgan O Hamm and 3 more

Abstract read
In one paragraph

Article in Genome research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Review
  2. Synthetic Regulatory Genomics.Annual review of genomics and human genetics · 2026
    Review
  3. Article
  4. Article
  5. Centromeres in the thermotolerant yeast K. marxianus mediate attachment to a single microtubule.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2025
    Article
  6. A haplotype-resolved view of human gene regulation.bioRxiv : the preprint server for biology · 2025
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors.

Stephanie C BohaczukDivision of Medical Genetics, University of Washington School of Medicine, Seattle, Washington 98195, USA.ORCID 0000-0001-8802-6579
Zachary J AmadorDepartment of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.
Chang LiDivision of Medical Genetics, University of Washington School of Medicine, Seattle, Washington 98195, USA.
Benjamin J MalloryDepartment of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.ORCID 0000-0003-1572-6181
Elliott G SwansonDepartment of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.ORCID 0000-0002-0351-6446
Jane RanchalisDivision of Medical Genetics, University of Washington School of Medicine, Seattle, Washington 98195, USA.
Mitchell R VollgerDivision of Medical Genetics, University of Washington School of Medicine, Seattle, Washington 98195, USA.ORCID 0000-0002-8651-1615
Katherine M MunsonDepartment of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.ORCID 0000-0001-8413-6498
Tom WalshDivision of Medical Genetics, University of Washington School of Medicine, Seattle, Washington 98195, USA.
Morgan O HammDepartment of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.ORCID 0000-0003-4192-2688
Yizi MaoDivision of Medical Genetics, University of Washington School of Medicine, Seattle, Washington 98195, USA.ORCID 0000-0001-5743-6831
Andre LieberDivision of Medical Genetics, University of Washington School of Medicine, Seattle, Washington 98195, USA.ORCID 0000-0001-6742-6266
Andrew B StergachisDivision of Medical Genetics, University of Washington School of Medicine, Seattle, Washington 98195, USA; absterga@uw.edu.ORCID 0000-0002-1299-3674

Funding

University of Washington Alzheimer's Disease Research CenterP30AG066509 · NIA · UNIVERSITY OF WASHINGTON · PI Jeffrey J Iliff · 2020 to 2026
$29.0M
Somatic Mosaicism across Human Tissues Program: Genome Characterization Centers (GCC SMaHT)UM1DA058220 · NIDA · SEATTLE CHILDREN'S HOSPITAL · PI JAMES T BENNETT, Evan Eichler · 2023 to 2026
$15.2M
Medical Genetics Training GrantT32GM007454 · NIGMS · UNIVERSITY OF WASHINGTON · PI Gail Pairitz Jarvik, Andrew Ben Stergachis · 1985 to 2026
$6.9M
Investigating the contribution of non-coding genetic variation to rare disordersDP5OD029630 · OD · UNIVERSITY OF WASHINGTON · PI STERGACHIS, ANDREW BEN · 2020 to 2024
$1.9M
NIA NIH HHS P30 AG066509NIDA NIH HHS UM1 DA058220NIGMS NIH HHS T32 GM007454NIH HHS DP5 OD029630
6 · The paper itself

Abstract

Accurately quantifying the functional consequences of noncoding mosaic variants requires the pairing of DNA sequences with both accessible and closed chromatin architectures along individual DNA molecules-a pairing that cannot be achieved using traditional fragmentation-based chromatin assays. We demonstrate that targeted single-molecule chromatin fiber sequencing (Fiber-seq) achieves this, permitting single-molecule, long-read genomic, and epigenomic profiling across targeted >100 kb loci with ∼10-fold enrichment over untargeted sequencing. Targeted Fiber-seq reveals that pathogenic expansions of the

Indexed as

ChromatinHumansMosaicismPromoter Regions, GeneticSequence Analysis, DNAChromatin

Identifiers

PMID39653420
PMCPMC11694741

What Socratic holds

Textmetadata
LicenceCC BY-NC
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 Socratic graph.