Evidence map›Paper›PMID 29048532›Full record

ArticleGigaScience2017

Lightning-fast genome variant detection with GROM.

Sean D Smith, Joseph K Kawash, Andrey Grigoriev

Abstract read
In one paragraph

Article in GigaScience, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing 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

11 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Structural variant identification and characterization.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2020
    Article
  9. Article
  10. ARIADNA: machine learning method for ancient DNA variant discovery.DNA research : an international journal for rapid publication of reports on genes and genomes · 2018
    Article
  11. 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.

Sean D SmithDepartment of Biology, Center for Computational and Integrative Biology, Rutgers University, 315 Penn St, Camden 08102, NJ, USA.
Joseph K KawashDepartment of Biology, Center for Computational and Integrative Biology, Rutgers University, 315 Penn St, Camden 08102, NJ, USA.
Andrey GrigorievDepartment of Biology, Center for Computational and Integrative Biology, Rutgers University, 315 Penn St, Camden 08102, NJ, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Current human whole genome sequencing projects produce massive amounts of data, often creating significant computational challenges. Different approaches have been developed for each type of genome variant and method of its detection, necessitating users to run multiple algorithms to find variants. We present Genome Rearrangement OmniMapper (GROM), a novel comprehensive variant detection algorithm accepting aligned read files as input and finding SNVs, indels, structural variants (SVs), and copy number variants (CNVs). We show that GROM outperforms state-of-the-art methods on 7 validated benchmarks using 2 whole genome sequencing (WGS) data sets. Additionally, GROM boasts lightning-fast run times, analyzing a 50× WGS human data set (NA12878) on commonly available computer hardware in 11 minutes, more than an order of magnitude (up to 72 times) faster than tools detecting a similar range of variants. Addressing the needs of big data analysis, GROM combines in 1 algorithm SNV, indel, SV, and CNV detection, providing superior speed, sensitivity, and precision. GROM is also able to detect CNVs, SNVs, and indels in non-paired-read WGS libraries, as well as SNVs and indels in whole exome or RNA sequencing data sets.

Indexed as

Polymorphism, GeneticSoftwareGenome, HumanHumansWhole Genome Sequencingcopy number variantsGROMindelsSNVsstructural variantsvariant detectionwhole genome sequencing

Identifiers

PMID29048532
PMCPMC5737730

What OpenQuestion holds

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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.