Evidence map›Paper›PMID 28399795›Full record

ArticleBMC bioinformatics2017

Pan-cancer analysis of systematic batch effects on somatic sequence variations.

Ji-Hye Choi, Seong-Eui Hong, Hyun Goo Woo

Abstract read
In one paragraph

Article in BMC bioinformatics, 2017. 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.

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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

3 authors.

Ji-Hye ChoiDepartment of Physiology, Ajou University School of Medicine, 164 Worldcup-ro, Yeongtong-gu, Suwon, South Korea.
Seong-Eui HongDepartment of Physiology, Ajou University School of Medicine, 164 Worldcup-ro, Yeongtong-gu, Suwon, South Korea.
Hyun Goo WooDepartment of Physiology, Ajou University School of Medicine, 164 Worldcup-ro, Yeongtong-gu, Suwon, South Korea. hg@ajou.ac.kr.ORCID http://orcid.org/0000-0002-0916-893X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe Cancer Genome Atlas (TCGA) is a comprehensive database that includes multi-layered cancer genome profiles. Large-scale collection of data inevitably generates batch effects introduced by differences in processing at various stages from sample collection to data generation. However, batch effects on the sequence variation and its characteristics have not been studied extensively.

resultsWe systematically evaluated batch effects on somatic sequence variations in pan-cancer TCGA data, revealing 999 somatic variants that were batch-biased with statistical significance (P < 0.00001, Fisher's exact test, false discovery rate ≤ 0.0027). Most of the batch-biased variants were associated with specific sample plates. The batch-biased variants, which had a unique mutational spectrum with frequent indel-type mutations, preferentially occurred at sites prone to sequencing errors, e.g., in long homopolymer runs. Non-indel type batch-biased variants were frequent at splicing sites with the unique consensus motif sequence 'TTDTTTAGTT'. Furthermore, some batch-biased variants occur in known cancer genes, potentially causing misinterpretation of mutation profiles.

conclusionsOur strategy for identifying batch-biased variants and characterising sequence patterns might be useful in eliminating false variants and facilitating correct interpretation of sequence profiles.

Indexed as

MutationDatabases, GeneticGenomicsHumansNeoplasmsReproducibility of ResultsSequence Analysis, DNABatch effectMutationPan-cancerTCGA

Identifiers

PMID28399795
PMCPMC5387285

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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.