Literature DB >> 22877770

A solid quality-control analysis of AB SOLiD short-read sequencing data.

Stefano Castellana1, Marta Romani, Enza Maria Valente, Tommaso Mazza.   

Abstract

Next generation sequencers have greatly improved our ability to mine polymorphisms and mutations out of entire (or portions of) genomes. The reliability of their outputs, though, showed to be very related to the sequencing chemistry and to deeply affect the quality of the downstream analyses. We focus here on the two-base color code chemistry of AB SOLiD sequencers and propose a comprehensive quality control methodological and software pipeline. We used existing and custom tools to detect and purge short-reads of some common flaws due to sequencing errors and chemical hitches. We apply them to a cohort of SOLiD 4 runs and measure their joint efficacy in terms of the resulting ability to detect the greatest possible number of true variants.

Keywords:  genetics; next generation sequencing; sequencing quality control

Mesh:

Year:  2012        PMID: 22877770     DOI: 10.1093/bib/bbs048

Source DB:  PubMed          Journal:  Brief Bioinform        ISSN: 1467-5463            Impact factor:   11.622


  4 in total

1.  Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus.

Authors:  Sabrina Prudente; Prapaporn Jungtrakoon; Antonella Marucci; Ornella Ludovico; Patinut Buranasupkajorn; Tommaso Mazza; Timothy Hastings; Teresa Milano; Eleonora Morini; Luana Mercuri; Diego Bailetti; Christine Mendonca; Federica Alberico; Giorgio Basile; Marta Romani; Elide Miccinilli; Antonio Pizzuti; Massimo Carella; Fabrizio Barbetti; Stefano Pascarella; Piero Marchetti; Vincenzo Trischitta; Rosa Di Paola; Alessandro Doria
Journal:  Am J Hum Genet       Date:  2015-06-11       Impact factor: 11.025

Review 2.  Next generation sequencing-based salivary biomarkers in oral squamous cell carcinoma.

Authors:  Buyanbileg Sodnom-Ish; Mi Young Eo; Hoon Myoung; Jong Ho Lee; Soung Min Kim
Journal:  J Korean Assoc Oral Maxillofac Surg       Date:  2022-02-28

3.  Challenges in exome analysis by LifeScope and its alternative computational pipelines.

Authors:  Erinija Pranckevičiene; Tautvydas Rančelis; Aidas Pranculis; Vaidutis Kučinskas
Journal:  BMC Res Notes       Date:  2015-09-07

4.  Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment.

Authors:  Gianluigi Mazzoccoli; Rosella Tomanin; Tommaso Mazza; Francesca D'Avanzo; Marika Salvalaio; Laura Rigon; Alessandra Zanetti; Valerio Pazienza; Massimo Francavilla; Francesco Giuliani; Manlio Vinciguerra; Maurizio Scarpa
Journal:  BMC Med Genomics       Date:  2013-10-02       Impact factor: 3.063

  4 in total

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