Evidence map›Paper›PMID 35524317›Full record

ArticleGenome biology2022

TT-Mars: structural variants assessment based on haplotype-resolved assemblies.

Jianzhi Yang, Mark J P Chaisson

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 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. ASVBM: Structural variant benchmarking with local joint analysis for multiple callsets.Computational and structural biotechnology journal · 2025
    Article
  6. Article
  7. Review
  8. Review
  9. Article
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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

2 authors.

Jianzhi YangDepartment of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.
Mark J P ChaissonDepartment of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA. mchaisso@usc.edu.ORCID 0000-0001-5395-1457

Funding

Identifying and Characterizing the Full Spectrum of Haplotype-resolved Structural Variation in Human GenomesU24HG007497 · NHGRI · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI Evan Eichler, CHARLES LEE · 2019 to 2026
$17.2M
Detection and genotyping complex human genetic variation using single-molecule sequencingR01HG011649 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Mark Chaisson · 2021 to 2026
$2.5M
NHGRI NIH HHS R01 HG011649NHGRI NIH HHS U24 HG007497
6 · The paper itself

Abstract

Variant benchmarking is often performed by comparing a test callset to a gold standard set of variants. In repetitive regions of the genome, it may be difficult to establish what is the truth for a call, for example, when different alignment scoring metrics provide equally supported but different variant calls on the same data. Here, we provide an alternative approach, TT-Mars, that takes advantage of the recent production of high-quality haplotype-resolved genome assemblies by providing false discovery rates for variant calls based on how well their call reflects the content of the assembly, rather than comparing calls themselves.

Indexed as

Polymorphism, Single NucleotideSoftwareGenomeHaplotypesHigh-Throughput Nucleotide SequencingBenchmarkingStructural variantsValidation

Identifiers

PMID35524317
PMCPMC9077962

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.