Literature DB >> 21398674

TEQC: an R package for quality control in target capture experiments.

Manuela Hummel1, Sarah Bonnin, Ernesto Lowy, Guglielmo Roma.   

Abstract

UNLABELLED: TEQC is an R/Bioconductor package for quality assessment of target enrichment experiments. Quality measures comprise specificity and sensitivity of the capture, enrichment, per-target read coverage and its relation to hybridization probe characteristics, coverage uniformity and reproducibility, and read duplicate analysis. Several diagnostic plots allow visual inspection of the data quality.
AVAILABILITY AND IMPLEMENTATION: TEQC is implemented in the R language (version >2.12.0) and is available as a Bioconductor package for Linux, Windows and MacOS from www.bioconductor.org.

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Year:  2011        PMID: 21398674     DOI: 10.1093/bioinformatics/btr122

Source DB:  PubMed          Journal:  Bioinformatics        ISSN: 1367-4803            Impact factor:   6.937


  11 in total

1.  TARDIS, a targeted RNA directional sequencing method for rare RNA discovery.

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Journal:  Nat Protoc       Date:  2015-10-29       Impact factor: 13.491

2.  Human cells contain natural double-stranded RNAs with potential regulatory functions.

Authors:  Maximiliano M Portal; Valeria Pavet; Cathie Erb; Hinrich Gronemeyer
Journal:  Nat Struct Mol Biol       Date:  2014-12-15       Impact factor: 15.369

3.  Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy.

Authors:  Sandra Mastroianno; Pietro Palumbo; Stefano Castellana; Maria Pia Leone; Raimondo Massaro; Domenico Rosario Potenza; Tommaso Mazza; Aldo Russo; Marco Castori; Massimo Carella; Giuseppe Di Stolfo
Journal:  Ann Noninvasive Electrocardiol       Date:  2019-09-16       Impact factor: 1.468

4.  HumMeth27QCReport: an R package for quality control and primary analysis of Illumina Infinium methylation data.

Authors:  Francesco M Mancuso; Magda Montfort; Anna Carreras; Andreu Alibés; Guglielmo Roma
Journal:  BMC Res Notes       Date:  2011-12-19

5.  UroMark-a urinary biomarker assay for the detection of bladder cancer.

Authors:  Andrew Feber; Pawan Dhami; Liqin Dong; Patricia de Winter; Wei Shen Tan; Mónica Martínez-Fernández; Dirk S Paul; Antony Hynes-Allen; Sheida Rezaee; Pratik Gurung; Simon Rodney; Ahmed Mehmood; Felipe Villacampa; Federico de la Rosa; Charles Jameson; Kar Keung Cheng; Maurice P Zeegers; Richard T Bryan; Nicholas D James; Jesus M Paramio; Alex Freeman; Stephan Beck; John D Kelly
Journal:  Clin Epigenetics       Date:  2017-01-31       Impact factor: 6.551

6.  Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction.

Authors:  Maria Pia Leone; Pietro Palumbo; Johan Saenen; Sandra Mastroianno; Stefano Castellana; Cesare Amico; Tommaso Mazza; Domenico Rosario Potenza; Antonio Petracca; Marco Castori; Massimo Carella; Giuseppe Di Stolfo
Journal:  Front Cardiovasc Med       Date:  2021-05-20

7.  Detailed molecular characterisation of acute myeloid leukaemia with a normal karyotype using targeted DNA capture.

Authors:  N Conte; I Varela; C Grove; N Manes; K Yusa; T Moreno; A Segonds-Pichon; A Bench; E Gudgin; B Herman; N Bolli; P Ellis; D Haddad; P Costeas; R Rad; M Scott; B Huntly; A Bradley; G S Vassiliou
Journal:  Leukemia       Date:  2013-04-18       Impact factor: 11.528

8.  Low Input Whole-Exome Sequencing to Determine the Representation of the Tumor Exome in Circulating DNA of Non-Small Cell Lung Cancer Patients.

Authors:  Steffen Dietz; Uwe Schirmer; Clémentine Mercé; Nikolas von Bubnoff; Edgar Dahl; Michael Meister; Thomas Muley; Michael Thomas; Holger Sültmann
Journal:  PLoS One       Date:  2016-08-16       Impact factor: 3.240

9.  The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.

Authors:  Maria Pia Leone; Pietro Palumbo; Orazio Palumbo; Ester Di Muro; Massimiliano Chetta; Nicola Laforgia; Nicoletta Resta; Alessandro Stella; Stefano Castellana; Tommaso Mazza; Marco Castori; Massimo Carella; Nenad Bukvic
Journal:  Ital J Pediatr       Date:  2020-05-27       Impact factor: 2.638

10.  Assessment of RainDrop BS-seq as a method for large-scale, targeted bisulfite sequencing.

Authors:  Dirk S Paul; Paul Guilhamon; Anna Karpathakis; Lee M Butcher; Christina Thirlwell; Andrew Feber; Stephan Beck
Journal:  Epigenetics       Date:  2014-02-11       Impact factor: 4.528

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