Evidence map›Paper›PMID 21920052›Full record

ReviewGenome biology2011

Computational and statistical approaches to analyzing variants identified by exome sequencing.

Nathan O Stitziel, Adam Kiezun, Shamil Sunyaev

Abstract readReview
In one paragraph

Review in Genome biology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers.

0numbers the graph read from it
0cells of the map it votes in
79citing 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

79 citing papers in PubMed.

  1. Trial
  2. The c.1243T>C mutation in theClinical case reports · 2023
    Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. NGS in Hereditary Ataxia: When Rare Becomes Frequent.International journal of molecular sciences · 2021
    Article
  8. Article
  9. Article
  10. Review
  11. Laboratory Approach to Hemolytic Anemia.Indian journal of pediatrics · 2020
    Review
  12. Article
  13. Genetic Variations and Precision Medicine.Perspectives in health information managemen · 2019
    Review
  14. Article
  15. Article
  16. The first case of NSHL by direct impression onIranian journal of basic medical sciences · 2018
    Article
  17. Review
  18. Article
  19. Human Genomic Loci Important in Common Infectious Diseases: Role of High-Throughput Sequencing and Genome-Wide Association Studies.The Canadian journal of infectious diseases & medical microbiology = Journal canadien des maladies infectieuses et de la microbiologie medicale · 2018
    Review
  20. Article

19 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

3 authors.

Nathan O StitzielDivision of Cardiovascular Medicine, Brigham and Women’s Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.
Adam Kiezun
Shamil Sunyaev

Funding

TRAINING PROGRAM IN CARDIOVASCULAR RESEARCHT32HL007604 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI MARK W FEINBERG · 1985 to 2026
$19.0M
New Methods and Enhanced Software for Predicting Functional SNPsR01GM078598 · NIGMS · BRIGHAM AND WOMEN'S HOSPITAL · PI SUNYAEV, SHAMIL · 2007 to 2017
$3.5M
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 T32-HL07604-25NIGMS NIH HHS R01-GM078598NIMH NIH HHS R01-MH084676
6 · The paper itself

Abstract

New sequencing technology has enabled the identification of thousands of single nucleotide polymorphisms in the exome, and many computational and statistical approaches to identify disease-association signals have emerged.

Indexed as

Computational BiologyExomeAllelesData Interpretation, StatisticalGene FrequencyGenetic Diseases, InbornGenetic LociGenetic Predisposition to DiseaseGenetics, PopulationGenome, HumanGenomicsHumansPhenotypePolymorphism, Single NucleotideSequence Analysis, DNA

Identifiers

PMID21920052
PMCPMC3308043

What OpenQuestion holds

Textmetadata
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.