Literature DB >> 33737983

A super scalable algorithm for short segment detection.

Ning Hao1, Yue Selena Niu1, Feifei Xiao2, Heping Zhang3.   

Abstract

In many applications such as copy number variant (CNV) detection, the goal is to identify short segments on which the observations have different means or medians from the background. Those segments are usually short and hidden in a long sequence, and hence are very challenging to find. We study a super scalable short segment (4S) detection algorithm in this paper. This nonparametric method clusters the locations where the observations exceed a threshold for segment detection. It is computationally efficient and does not rely on Gaussian noise assumption. Moreover, we develop a framework to assign significance levels for detected segments. We demonstrate the advantages of our proposed method by theoretical, simulation, and real data studies.

Entities:  

Keywords:  copy number variation; inference; nonparametric method; signal detection

Year:  2020        PMID: 33737983      PMCID: PMC7963345          DOI: 10.1007/s12561-020-09278-z

Source DB:  PubMed          Journal:  Stat Biosci        ISSN: 1867-1764


  14 in total

1.  Circular binary segmentation for the analysis of array-based DNA copy number data.

Authors:  Adam B Olshen; E S Venkatraman; Robert Lucito; Michael Wigler
Journal:  Biostatistics       Date:  2004-10       Impact factor: 5.899

Review 2.  Structural variation in the human genome.

Authors:  Lars Feuk; Andrew R Carson; Stephen W Scherer
Journal:  Nat Rev Genet       Date:  2006-02       Impact factor: 53.242

3.  Modified screening and ranking algorithm for copy number variation detection.

Authors:  Feifei Xiao; Xiaoyi Min; Heping Zhang
Journal:  Bioinformatics       Date:  2014-12-25       Impact factor: 6.937

Review 4.  Copy number variation: new insights in genome diversity.

Authors:  Jennifer L Freeman; George H Perry; Lars Feuk; Richard Redon; Steven A McCarroll; David M Altshuler; Hiroyuki Aburatani; Keith W Jones; Chris Tyler-Smith; Matthew E Hurles; Nigel P Carter; Stephen W Scherer; Charles Lee
Journal:  Genome Res       Date:  2006-06-29       Impact factor: 9.043

5.  Multiple Change-Point Detection via a Screening and Ranking Algorithm.

Authors:  Ning Hao; Yue Selena Niu; Heping Zhang
Journal:  Stat Sin       Date:  2013-07-01       Impact factor: 1.261

6.  Optimal Sparse Segment Identification with Application in Copy Number Variation Analysis.

Authors:  X Jessie Jeng; T Tony Cai; Hongzhe Li
Journal:  J Am Stat Assoc       Date:  2012-01-01       Impact factor: 5.033

7.  Analysis of germline gene copy number variants of patients with sporadic pancreatic adenocarcinoma reveals specific variations.

Authors:  Daniele Fanale; Juan Lucio Iovanna; Ezequiel Luis Calvo; Patrice Berthezene; Pascal Belleau; Jean Charles Dagorn; Chiara Ancona; Giovanna Catania; Paolo D'Alia; Antonio Galvano; Eliana Gulotta; Silvia Lo Dico; Francesco Passiglia; Giuseppe Bronte; Massimo Midiri; Giuseppe Lo Re; Giuseppe Cicero; Viviana Bazan; Antonio Russo
Journal:  Oncology       Date:  2013-11-09       Impact factor: 2.935

8.  Copy number variation distribution in six monozygotic twin pairs discordant for schizophrenia.

Authors:  Christina A Castellani; Zain Awamleh; Melkaye G Melka; Richard L O'Reilly; Shiva M Singh
Journal:  Twin Res Hum Genet       Date:  2014-02-20       Impact factor: 1.587

9.  Robust Detection and Identification of Sparse Segments in Ultra-High Dimensional Data Analysis.

Authors:  T Tony Cai; X Jessie Jeng; Hongzhe Li
Journal:  J R Stat Soc Series B Stat Methodol       Date:  2012-11       Impact factor: 4.488

10.  THE SCREENING AND RANKING ALGORITHM TO DETECT DNA COPY NUMBER VARIATIONS.

Authors:  Yue S Niu; Heping Zhang
Journal:  Ann Appl Stat       Date:  2012-09       Impact factor: 2.083

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