Evidence map›Paper›PMID 35720252›Full record

ArticleCell genomics2022

SNPs, short tandem repeats, and structural variants are responsible for differential gene expression across C57BL/6 and C57BL/10 substrains.

Milad Mortazavi, Yangsu Ren, Shubham Saini, Danny Antaki, Celine L St Pierre, April Williams, Abhishek Sohni, Miles F Wilkinson, Melissa Gymrek, Jonathan Sebat and 1 more

Open access · goldAbstract read
In one paragraph

Article in Cell genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
3.6field-weighted citation impact, top 7% of its field
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

25 citing papers in PubMed, 22 citations in OpenAlex.

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  14. bioRxiv : the preprint server for biology · 2024
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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

11 authors at 3 institutions in 1 country.

Milad MortazaviDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.
Yangsu RenDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.
Shubham SainiDepartment of Computer Science and Engineering, University of California San Diego, La Jolla, CA, USA.
Danny AntakiDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.
Celine L St PierreDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
April WilliamsSalk Institute for Biological Studies, La Jolla, CA, USA.
Abhishek SohniDepartment of Obstetrics, Gynecology and Reproductive Sciences, University of California San Diego, La Jolla, CA, USA.
Miles F WilkinsonDepartment of Obstetrics, Gynecology and Reproductive Sciences, University of California San Diego, La Jolla, CA, USA.
Melissa GymrekDepartment of Computer Science and Engineering, University of California San Diego, La Jolla, CA, USA.
Jonathan SebatDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.
Abraham A PalmerDepartment of Psychiatry, University of California San Diego, La Jolla, CA, USA.
University of California San Diego · USSalk Institute for Biological Studies · USWashington University in St. Louis · US

Funding

Sequencing CoreP50DA037844 · NIDA · UNIVERSITY OF CHICAGO · PI PALMER, ABRAHAM A · 2014 to 2023
$27.4M
Fellowship on Biological Psychiatry and NeuroscienceT32MH018399 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Pei-an (Betty) Shih · 1986 to 2026
$7.3M
Expanding the accessible genetic architecture of autism by single molecule sequencingR01MH113715 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SEBAT, JONATHAN · 2017 to 2021
$4.1M
The role of structural variants and tandem repeats in substance abuse-related behavioral traitsU01DA051234 · NIDA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GYMREK, MELISSA, PALMER, ABRAHAM A · 2021 to 2025
$3.5M
The Role of NMD in Embryonic DevelopmentR01HD093846 · NICHD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI WILKINSON, MILES FROME · 2018 to 2022
$2.3M
Training in Emerging Multidisciplinary Approaches to Mental Health and DiseaseT32MH020065 · NIMH · UNIVERSITY OF CHICAGO · PI NICOLAE, DAN LIVIU, RZHETSKY, ANDREY · 2002 to 2017
$2.3M
NICHD NIH HHS R01 HD093846NIDA NIH HHS P50 DA037844NIDA NIH HHS U01 DA051234NIMH NIH HHS R01 MH113715NIMH NIH HHS T32 MH018399NIMH NIH HHS T32 MH020065
6 · The paper itself

Abstract

Mouse substrains are an invaluable model for understanding disease. We compared C57BL/6J, which is the most commonly used inbred mouse strain, with eight C57BL/6 and five C57BL/10 closely related inbred substrains. Whole-genome sequencing and RNA-sequencing analysis yielded 352,631 SNPs, 109,096 indels, 150,344 short tandem repeats (STRs), 3,425 structural variants (SVs), and 2,826 differentially expressed genes (DE genes) among these 14 strains; 312,981 SNPs (89%) distinguished the B6 and B10 lineages. These SNPs were clustered into 28 short segments that are likely due to introgressed haplotypes rather than new mutations. Outside of these introgressed regions, we identified 53 SVs, protein-truncating SNPs, and frameshifting indels that were associated with DE genes. Our results can be used for both forward and reverse genetic approaches and illustrate how introgression and mutational processes give rise to differences among these widely used inbred substrains.

Identifiers

PMID35720252
PMCPMC9205302
OpenAlexW4220702256

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.