Evidence map›Paper›PMID 22555591›Full record

ArticleGenome research2012

Mutation mapping and identification by whole-genome sequencing.

Ignaty Leshchiner, Kristen Alexa, Peter Kelsey, Ivan Adzhubei, Christina A Austin-Tse, Jeffrey D Cooney, Heidi Anderson, Matthew J King, Rolf W Stottmann, Maija K Garnaas and 7 more

Abstract read
In one paragraph

Article in Genome research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers.

0numbers the graph read from it
0cells of the map it votes in
92citing 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

92 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Defects in Exosome Biogenesis Are Associated with Sensorimotor Defects in ZebrafishThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2024
    Article
  7. Article
  8. Article
  9. Review
  10. Loss of Sec-1 Family Domain-Containing 1 (Journal of cardiovascular development and disease · 2023
    Article
  11. Article
  12. Review
  13. Review
  14. Article
  15. Biomedicines · 2022
    Article
  16. Article
  17. Voltage-gated sodium channelProceedings of the National Academy of Sciences of the United States of America · 2022
    Article
  18. Article
  19. Article
  20. Article

32 more citing papers are in PubMed but not listed here.

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

17 authors.

Ignaty LeshchinerGenetics Division, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Kristen Alexa
Peter Kelsey
Ivan Adzhubei
Christina A Austin-Tse
Jeffrey D Cooney
Heidi Anderson
Matthew J King
Rolf W Stottmann
Maija K Garnaas
Seungshin Ha
Iain A Drummond
Barry H Paw
Trista E North
David R Beier
Wolfram Goessling
Shamil R Sunyaev

Funding

TRANSCRIPTION FACTOR GATA-1 IN TERMINAL ERYTHROID DEVELOPMENTP01HL032262 · NHLBI · CHILDREN'S HOSPITAL BOSTON · PI ORKIN, STUART H · 1985 to 2021
$38.9M
Mutagenesis and Murine Embyonic DevelopmentR01HD036404 · NICHD · SEATTLE CHILDREN'S HOSPITAL · PI BEIER, DAVID R. · 1998 to 2020
$8.1M
GENETIC ANALYSIS OF ZEBRAFISH KIDNEY DEVELOPMENTR01DK053093 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI DRUMMOND, IAIN A. · 1997 to 2018
$5.2M
Estrogen Regulation of Hepatic GrowthR01DK090311 · NIDDK · BRIGHAM AND WOMEN'S HOSPITAL · PI GOESSLING, WOLFRAM · 2011 to 2020
$4.9M
Analysis of neurodevelopment using mouse mutagenesisR01MH081187 · NIMH · SEATTLE CHILDREN'S HOSPITAL · PI BEIER, DAVID R. · 2008 to 2012
$2.4M
Frascati: mitochondrial transporter and erythropoiesisR01DK070838 · NIDDK · BRIGHAM AND WOMEN'S HOSPITAL · PI PAW, BARRY H · 2007 to 2011
$1.8M
Statistical Methods for the Design and Interpretation of Deep Resequencing StudieR01MH084676 · NIMH · BRIGHAM AND WOMEN'S HOSPITAL · PI SUNYAEV, SHAMIL · 2008 to 2010
$1.7M
NHLBI NIH HHS P01 HL032262NHLBI NIH HHS P01HL032262NICHD NIH HHS R01 HD036404NICHD NIH HHS R01HD036404NIDDK NIH HHS 1R01DK090311NIDDK NIH HHS R01 DK070838NIDDK NIH HHS R01DK070838NIDDK NIH HHS R01 DK090311NIMH NIH HHS 5R01MH084676NIMH NIH HHS R01 MH081187NIMH NIH HHS R01MH081187NIMH NIH HHS R01 MH084676
6 · The paper itself

Abstract

Genetic mapping of mutations in model systems has facilitated the identification of genes contributing to fundamental biological processes including human diseases. However, this approach has historically required the prior characterization of informative markers. Here we report a fast and cost-effective method for genetic mapping using next-generation sequencing that combines single nucleotide polymorphism discovery, mutation localization, and potential identification of causal sequence variants. In contrast to prior approaches, we have developed a hidden Markov model to narrowly define the mutation area by inferring recombination breakpoints of chromosomes in the mutant pool. In addition, we created an interactive online software resource to facilitate automated analysis of sequencing data and demonstrate its utility in the zebrafish and mouse models. Our novel methodology and online tools will make next-generation sequencing an easily applicable resource for mutation mapping in all model systems.

Indexed as

SoftwareAllelesAnimalsChromosome MappingChromosomesCrosses, GeneticDNA Mutational AnalysisFemaleGene FrequencyGenomicsHomozygoteMaleMarkov ChainsMiceMice, Inbred C57BLMutation

Identifiers

PMID22555591
PMCPMC3409267

What OpenQuestion 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 OpenQuestion graph.