Evidence map›Paper›PMID 21587300›Full record

ReviewNature reviews. Genetics2011

Genotype and SNP calling from next-generation sequencing data.

Rasmus Nielsen, Joshua S Paul, Anders Albrechtsen, Yun S Song

Abstract readReview
In one paragraph

Review in Nature reviews. Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 630 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
630citing papers in PubMed, 2 pooled it
–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

630 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Article
  5. Review
  6. Article
  7. Review
  8. Article
  9. Article
  10. Genotypic Characterization and Evaluation ofCurrent issues in molecular biology · 2026
    Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Review
  17. Article
  18. Article
  19. High-quality genome ofPlant diversity · 2026
    Article
  20. Article

570 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

4 authors.

Rasmus NielsenDepartment of Integrative Biology, University of California, Berkeley, CA 94720, USA. rasmus_nielsen@berkeley.edu
Joshua S Paul
Anders Albrechtsen
Yun S Song

Funding

GENOMICST32HG000047 · NHGRI · UNIVERSITY OF CALIFORNIA BERKELEY · PI RASMUS NIELSEN, Daniel Soleyman Rokhsar · 2000 to 2026
$13.5M
Population Genetic Inferences From Dense Genotype DataR01HG003229 · NHGRI · CORNELL UNIVERSITY ITHACA · PI BUSTAMANTE, CARLOS DANIEL, CLARK, ANDREW G · 2004 to 2013
$4.8M
NHGRI NIH HHS R01 HG003229NHGRI NIH HHS R01-HG003229-05NHGRI NIH HHS R01-HG003229-0551NHGRI NIH HHS T32 HG000047NHGRI NIH HHS T32-HG00047
6 · The paper itself

Abstract

Meaningful analysis of next-generation sequencing (NGS) data, which are produced extensively by genetics and genomics studies, relies crucially on the accurate calling of SNPs and genotypes. Recently developed statistical methods both improve and quantify the considerable uncertainty associated with genotype calling, and will especially benefit the growing number of studies using low- to medium-coverage data. We review these methods and provide a guide for their use in NGS studies.

Indexed as

Polymorphism, Single NucleotideSequence Analysis, DNAAllelesChromosome MappingData Interpretation, StatisticalGenetic Diseases, InbornGenotypeHumansLikelihood FunctionsLinkage DisequilibriumProbability

Identifiers

PMID21587300
PMCPMC3593722

What OpenQuestion holds

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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.