Evidence map›Paper›PMID 26830926›Full record

ArticleBMC bioinformatics2016

ClinQC: a tool for quality control and cleaning of Sanger and NGS data in clinical research.

Ram Vinay Pandey, Stephan Pabinger, Albert Kriegner, Andreas Weinhäusel

Abstract read
In one paragraph

Article in BMC bioinformatics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing 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

13 citing papers in PubMed.

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  7. Computational challenges in detection of cancer using cell-free DNA methylation.Computational and structural biotechnology journal · 2022
    Review
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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

4 authors.

Ram Vinay PandeyHealth & Environment Department, Molecular Diagnostics, AIT Austrian Institute of Technology GmbH, Vienna, Austria. ramvinay.pandey@gmail.com.
Stephan PabingerHealth & Environment Department, Molecular Diagnostics, AIT Austrian Institute of Technology GmbH, Vienna, Austria. Stephan.Pabinger@ait.ac.at.
Albert KriegnerHealth & Environment Department, Molecular Diagnostics, AIT Austrian Institute of Technology GmbH, Vienna, Austria. albert.kriegner@outlook.com.
Andreas WeinhäuselHealth & Environment Department, Molecular Diagnostics, AIT Austrian Institute of Technology GmbH, Vienna, Austria. andreas.weinhaeusel@ait.ac.at.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundTraditional Sanger sequencing has been used as a gold standard method for genetic testing in clinic to perform single gene test, which has been a cumbersome and expensive method to test several genes in heterogeneous disease such as cancer. With the advent of Next Generation Sequencing technologies, which produce data on unprecedented speed in a cost effective manner have overcome the limitation of Sanger sequencing. Therefore, for the efficient and affordable genetic testing, Next Generation Sequencing has been used as a complementary method with Sanger sequencing for disease causing mutation identification and confirmation in clinical research. However, in order to identify the potential disease causing mutations with great sensitivity and specificity it is essential to ensure high quality sequencing data. Therefore, integrated software tools are lacking which can analyze Sanger and NGS data together and eliminate platform specific sequencing errors, low quality reads and support the analysis of several sample/patients data set in a single run.

resultsWe have developed ClinQC, a flexible and user-friendly pipeline for format conversion, quality control, trimming and filtering of raw sequencing data generated from Sanger sequencing and three NGS sequencing platforms including Illumina, 454 and Ion Torrent. First, ClinQC convert input read files from their native formats to a common FASTQ format and remove adapters, and PCR primers. Next, it split bar-coded samples, filter duplicates, contamination and low quality sequences and generates a QC report. ClinQC output high quality reads in FASTQ format with Sanger quality encoding, which can be directly used in down-stream analysis. It can analyze hundreds of sample/patients data in a single run and generate unified output files for both Sanger and NGS sequencing data. Our tool is expected to be very useful for quality control and format conversion of Sanger and NGS data to facilitate improved downstream analysis and mutation screening.

conclusionsClinQC is a powerful and easy to handle pipeline for quality control and trimming in clinical research. ClinQC is written in Python with multiprocessing capability, run on all major operating systems and is available at https://sourceforge.net/projects/clinqc.

Indexed as

Biomedical ResearchQuality ControlSoftwareComputational BiologyDNA PrimersHigh-Throughput Nucleotide SequencingHumansMutationSequence Analysis, DNADNA Primers

Identifiers

PMID26830926
PMCPMC4735967

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.