Evidence map›Paper›PMID 42123340›Full record

ReviewInternational journal of molecular sciences2026

Fifteen Years of the Genome Analysis Toolkit as the De Facto Standard in Short-Read Variant Calling.

Asta Blazyte, Long Le, Jaesuk Lee, Delger Bayarsaikhan, Bonghee Lee

Abstract readReview
In one paragraph

Review in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

5 authors.

Asta BlazyteSchool of Medicine, Gachon University, Incheon 21565, Republic of Korea.
Long LeVinmec Research Institute of Stem Cells and Gene Technology, Hanoi 100000, Vietnam.
Jaesuk LeenSAGE, Incheon 21999, Republic of Korea.
Delger BayarsaikhannSAGE, Incheon 21999, Republic of Korea.
Bonghee LeenSAGE, Incheon 21999, Republic of Korea.

Funding

Alchemist Project of the Korea Evaluation Institute of Industrial Technology KEIT 20018560Alchemist Project of the Korea Evaluation Institute of Industrial Technology NTIS 1415184668Korea Government RS-2023-00263429
6 · The paper itself

Abstract

Genome Analysis Toolkit (GATK) is a rigorously maintained collection of 430 analysis tools and a core bioinformatics engine. First released in 2010 as a toolkit for next-generation sequencing (NGS) data analysis, GATK remains one of the least celebrated yet foundational tools of the NGS era. By employing state-of-the-art approaches and continuously adapting to the evolving demands of NGS analysis, it has effectively unified the variant calling process worldwide. In a field as rapidly evolving as genomics, it is remarkable that, over a decade later, the same toolkit remains the gold standard. This critical review explores the pre-history of GATK, the reasons for its broad and enduring adoption by the scientific community, its developmental evolution, contributions to science, and future prospects.

Indexed as

Computational BiologyGenomicsHigh-Throughput Nucleotide SequencingSequence Analysis, DNASoftwareHistory, 21st CenturyHumansDNAGATKgenome analysis toolkitNGSvariant calling

Identifiers

PMID42123340
PMCPMC13164212

What Socratic 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 Socratic graph.