Evidence map›Paper›PMID 36195962›Full record

ArticleGenome biology2022

KAGE: fast alignment-free graph-based genotyping of SNPs and short indels.

Ivar Grytten, Knut Dagestad Rand, Geir Kjetil Sandve

Abstract read
In one paragraph

Article in Genome biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing 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

13 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Population-scale Long-read Sequencing in themedRxiv : the preprint server for health sciences · 2025
    Article
  6. Review
  7. Article
  8. Review
  9. Article
  10. Review
  11. Integer programming framework for pangenome-based genome inference.bioRxiv : the preprint server for biology · 2024
    Article
  12. Article
  13. Article
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.

Ivar GryttenDepartment of Informatics, University of Oslo, Gaustadalleen 23 B, 0371, Oslo, Norway. ivargry@ifi.uio.no.ORCID 0000-0001-8941-942X
Knut Dagestad RandDepartment of Informatics, University of Oslo, Gaustadalleen 23 B, 0371, Oslo, Norway.
Geir Kjetil SandveDepartment of Informatics, University of Oslo, Gaustadalleen 23 B, 0371, Oslo, Norway.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genotyping is a core application of high-throughput sequencing. We present KAGE, a genotyper for SNPs and short indels that is inspired by recent developments within graph-based genome representations and alignment-free methods. KAGE uses a pan-genome representation of the population to efficiently and accurately predict genotypes. Two novel ideas improve both the speed and accuracy: a Bayesian model incorporates genotypes from thousands of individuals to improve prediction accuracy, and a computationally efficient method leverages correlation between variants. We show that the accuracy of KAGE is at par with the best existing alignment-free genotypers, while being an order of magnitude faster.

Indexed as

INDEL MutationPolymorphism, Single NucleotideAlgorithmsBayes TheoremGenome, HumanGenotypeGenotyping TechniquesHigh-Throughput Nucleotide SequencingHumansSequence Analysis, DNAAlignment-freeGenotypingGraph genomesPangenomesVariant calling

Identifiers

PMID36195962
PMCPMC9531401

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Registered trials

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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.