Evidence map›Paper›PMID 39256198›Full record

ArticleBriefings in bioinformatics2024

Enhancing clinical genomic accuracy with panelGC: a novel metric and tool for quantifying and monitoring GC biases in hybridization capture panel sequencing.

Xuanjin Cheng, Murathan T Goktas, Laura M Williamson, Martin Krzywinski, David T Mulder, Lucas Swanson, Jill Slind, Jelena Sihvonen, Cynthia R Chow, Amy Carr and 7 more

Abstract read
In one paragraph

Article in Briefings in bioinformatics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

  1. Article
  2. Article
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  4. AI-driven drug design: a comprehensive review.Journal of computer-aided molecular design · 2026
    Review
  5. Article
  6. Article
  7. Review
  8. 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

17 authors.

Xuanjin ChengCanada's Michael Smith Genome Sciences Centre, 570 W 7th Ave, Vancouver, British Columbia, V5Z 4S6, Canada.ORCID 0000-0002-2119-1788
Murathan T GoktasCanada's Michael Smith Genome Sciences Centre, 570 W 7th Ave, Vancouver, British Columbia, V5Z 4S6, Canada.
Laura M WilliamsonCanada's Michael Smith Genome Sciences Centre, 570 W 7th Ave, Vancouver, British Columbia, V5Z 4S6, Canada.
Martin KrzywinskiCanada's Michael Smith Genome Sciences Centre, 570 W 7th Ave, Vancouver, British Columbia, V5Z 4S6, Canada.ORCID 0009-0005-5785-3631
David T MulderCanada's Michael Smith Genome Sciences Centre, 570 W 7th Ave, Vancouver, British Columbia, V5Z 4S6, Canada.
Lucas SwansonCanada's Michael Smith Genome Sciences Centre, 570 W 7th Ave, Vancouver, British Columbia, V5Z 4S6, Canada.
Jill SlindCanada's Michael Smith Genome Sciences Centre, 570 W 7th Ave, Vancouver, British Columbia, V5Z 4S6, Canada.
Jelena SihvonenCanada's Michael Smith Genome Sciences Centre, 570 W 7th Ave, Vancouver, British Columbia, V5Z 4S6, Canada.
Cynthia R ChowCancer Genetics and Genomics Laboratory at BC Cancer Agency, 600 W 10th Ave #3305, Vancouver, British Columbia, V5Z 4E6, Canada.
Amy CarrCancer Genetics and Genomics Laboratory at BC Cancer Agency, 600 W 10th Ave #3305, Vancouver, British Columbia, V5Z 4E6, Canada.
Ian BosdetCancer Genetics and Genomics Laboratory at BC Cancer Agency, 600 W 10th Ave #3305, Vancouver, British Columbia, V5Z 4E6, Canada.
Tracy TuckerCancer Genetics and Genomics Laboratory at BC Cancer Agency, 600 W 10th Ave #3305, Vancouver, British Columbia, V5Z 4E6, Canada.
Sean YoungCancer Genetics and Genomics Laboratory at BC Cancer Agency, 600 W 10th Ave #3305, Vancouver, British Columbia, V5Z 4E6, Canada.
Richard MooreCanada's Michael Smith Genome Sciences Centre, 570 W 7th Ave, Vancouver, British Columbia, V5Z 4S6, Canada.
Karen L MungallCanada's Michael Smith Genome Sciences Centre, 570 W 7th Ave, Vancouver, British Columbia, V5Z 4S6, Canada.
Stephen YipCanada's Michael Smith Genome Sciences Centre, 570 W 7th Ave, Vancouver, British Columbia, V5Z 4S6, Canada.ORCID 0000-0002-8514-9861
Steven J M JonesCanada's Michael Smith Genome Sciences Centre, 570 W 7th Ave, Vancouver, British Columbia, V5Z 4S6, Canada.ORCID 0000-0003-3394-2208

Funding

Canada Research Chairs ProgramProvincial Health Services Authority Clinical Genomics
6 · The paper itself

Abstract

Accurate assessment of fragment abundance within a genome is crucial in clinical genomics applications such as the analysis of copy number variation (CNV). However, this task is often hindered by biased coverage in regions with varying guanine-cytosine (GC) content. These biases are particularly exacerbated in hybridization capture sequencing due to GC effects on probe hybridization and polymerase chain reaction (PCR) amplification efficiency. Such GC content-associated variations can exert a negative impact on the fidelity of CNV calling within hybridization capture panels. In this report, we present panelGC, a novel metric, to quantify and monitor GC biases in hybridization capture sequencing data. We establish the efficacy of panelGC, demonstrating its proficiency in identifying and flagging potential procedural anomalies, even in situations where instrument and experimental monitoring data may not be readily accessible. Validation using real-world datasets demonstrates that panelGC enhances the quality control and reliability of hybridization capture panel sequencing.

Indexed as

Base CompositionDNA Copy Number VariationsGenomicsGenome, HumanHigh-Throughput Nucleotide SequencingHumansNucleic Acid HybridizationReproducibility of ResultsSequence Analysis, DNAclinical genomicscopy number variationfragment abundanceGC biashybridization capture panel sequencingtargeted sequencing

Identifiers

PMID39256198
PMCPMC11387050

What OpenQuestion 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 OpenQuestion graph.