Literature DB >> 20207682

A very fast and accurate method for calling aberrations in array-CGH data.

Matteo Benelli1, Giuseppina Marseglia, Genni Nannetti, Roberta Paravidino, Federico Zara, Franca Dagna Bricarelli, Francesca Torricelli, Alberto Magi.   

Abstract

Array comparative genomic hybridization (aCGH) is a microarray technology that allows one to detect and map genomic alterations. The standard workflow of the aCGH data analysis consists of 2 steps: detecting the boundaries of the regions of changed copy number by means of a segmentation algorithm (break point identification) and then labeling each region as loss, neutral, or gain with a probabilistic framework (calling procedure). In this paper, we introduce a novel calling procedure based on a mixture of truncated normal distributions, named FastCall, that aims to give aberration probabilities to segmented aCGH data in a very fast and accurate way. Both on synthetic and real aCGH data, FastCall obtains excellent performances in terms of classification accuracy and running time.

Mesh:

Year:  2010        PMID: 20207682     DOI: 10.1093/biostatistics/kxq008

Source DB:  PubMed          Journal:  Biostatistics        ISSN: 1465-4644            Impact factor:   5.899


  8 in total

1.  Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2.

Authors:  Romina D'Aurizio; Tommaso Pippucci; Lorenzo Tattini; Betti Giusti; Marco Pellegrini; Alberto Magi
Journal:  Nucleic Acids Res       Date:  2016-08-09       Impact factor: 16.971

2.  Detecting common copy number variants in high-throughput sequencing data by using JointSLM algorithm.

Authors:  Alberto Magi; Matteo Benelli; Seungtai Yoon; Franco Roviello; Francesca Torricelli
Journal:  Nucleic Acids Res       Date:  2011-02-14       Impact factor: 16.971

3.  Shall genomic correlation structure be considered in copy number variants detection?

Authors:  Fei Qin; Xizhi Luo; Guoshuai Cai; Feifei Xiao
Journal:  Brief Bioinform       Date:  2021-11-05       Impact factor: 13.994

4.  EXCAVATOR: detecting copy number variants from whole-exome sequencing data.

Authors:  Alberto Magi; Lorenzo Tattini; Ingrid Cifola; Romina D'Aurizio; Matteo Benelli; Eleonora Mangano; Cristina Battaglia; Elena Bonora; Ants Kurg; Marco Seri; Pamela Magini; Betti Giusti; Giovanni Romeo; Tommaso Pippucci; Gianluca De Bellis; Rosanna Abbate; Gian Franco Gensini
Journal:  Genome Biol       Date:  2013       Impact factor: 13.583

5.  Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Review of The Literature.

Authors:  Alfredo Orrico; Giuseppina Marseglia; Chiara Pescucci; Ambra Cortesi; Paola Piomboni; Andrea Giansanti; Francesca Gerundino; Roberto Ponchietti
Journal:  Int J Fertil Steril       Date:  2015-12-23

6.  Tumor diversity and evolution revealed through RADseq.

Authors:  Elizabeth B Perry; Alvin Makohon-Moore; Caihong Zheng; Charles K Kaufman; Jun Cai; Christine A Iacobuzio-Donahue; Richard M White
Journal:  Oncotarget       Date:  2017-06-27

7.  XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments.

Authors:  Alberto Magi; Tommaso Pippucci; Carlo Sidore
Journal:  BMC Genomics       Date:  2017-09-21       Impact factor: 3.969

8.  VEGAWES: variational segmentation on whole exome sequencing for copy number detection.

Authors:  Samreen Anjum; Sandro Morganella; Fulvio D'Angelo; Antonio Iavarone; Michele Ceccarelli
Journal:  BMC Bioinformatics       Date:  2015-09-29       Impact factor: 3.169

  8 in total

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