Cargando…

Effective normalization for copy number variation detection from whole genome sequencing

BACKGROUND: Whole genome sequencing enables a high resolution view of the human genome and provides unique insights into genome structure at an unprecedented scale. There have been a number of tools to infer copy number variation in the genome. These tools, while validated, also include a number of...

Descripción completa

Detalles Bibliográficos
Autores principales:	Janevski, Angel, Varadan, Vinay, Kamalakaran, Sitharthan, Banerjee, Nilanjana, Dimitrova, Nevenka
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2012
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3481445/ https://www.ncbi.nlm.nih.gov/pubmed/23134596 http://dx.doi.org/10.1186/1471-2164-13-S6-S16

Ejemplares similares

PAPAyA: a platform for breast cancer biomarker signature discovery, evaluation and assessment
por: Janevski, Angel, et al.
Publicado: (2009)

Major Chromosomal Breakpoint Intervals in Breast Cancer Co-Localize with Differentially Methylated Regions
por: Eric Tang, Man-Hung, et al.
Publicado: (2012)

Identification of Tumor Suppressors and Oncogenes from Genomic and Epigenetic Features in Ovarian Cancer
por: Wrzeszczynski, Kazimierz O., et al.
Publicado: (2011)

CODEX: a normalization and copy number variation detection method for whole exome sequencing
por: Jiang, Yuchao, et al.
Publicado: (2015)

VEGAWES: variational segmentation on whole exome sequencing for copy number detection
por: Anjum, Samreen, et al.
Publicado: (2015)

A Survey of Copy Number Variation in the Porcine Genome Detected From Whole-Genome Sequence
por: Keel, Brittney N., et al.
Publicado: (2019)

Genome-wide detection of copy number variation in American mink using whole-genome sequencing
por: Davoudi, Pourya, et al.
Publicado: (2022)

Novel insights into breast cancer copy number genetic heterogeneity revealed by single-cell genome sequencing
por: Baslan, Timour, et al.
Publicado: (2020)

A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data
por: Gabrielaite, Migle, et al.
Publicado: (2021)

Comparative study of whole exome sequencing-based copy number variation detection tools
por: Zhao, Lanling, et al.
Publicado: (2020)

Copy number alterations detected by whole-exome and whole-genome sequencing of esophageal adenocarcinoma
por: Wang, Xiaoyu, et al.
Publicado: (2015)

An evaluation of copy number variation detection tools for cancer using whole exome sequencing data
por: Zare, Fatima, et al.
Publicado: (2017)

Analysis of Copy Number Variation in the Whole Genome of Normal-Haired and Long-Haired Tianzhu White Yaks
por: Meng, Guangyao, et al.
Publicado: (2022)

Long insert whole genome sequencing for copy number variant and translocation detection
por: Liang, Winnie S., et al.
Publicado: (2014)

Improvement of large copy number variant detection by whole genome nanopore sequencing
por: Cuenca-Guardiola, Javier, et al.
Publicado: (2022)

Methylation detection oligonucleotide microarray analysis: a high-resolution method for detection of CpG island methylation
por: Kamalakaran, Sitharthan, et al.
Publicado: (2009)

CopyDetective: Detection threshold–aware copy number variant calling in whole-exome sequencing data
por: Sandmann, Sarah, et al.
Publicado: (2020)

Copy-number-variation and copy-number-alteration region detection by cumulative plots
por: Li, Wentian, et al.
Publicado: (2009)

WisecondorX: improved copy number detection for routine shallow whole-genome sequencing
por: Raman, Lennart, et al.
Publicado: (2019)

Performance of copy number variants detection based on whole-genome sequencing by DNBSEQ platforms
por: Rao, Junhua, et al.
Publicado: (2020)

Combining callers improves the detection of copy number variants from whole-genome sequencing
por: Coutelier, Marie, et al.
Publicado: (2021)

Detection of copy number variants in African goats using whole genome sequence data
por: Nandolo, Wilson, et al.
Publicado: (2021)

WISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data
por: Straver, Roy, et al.
Publicado: (2017)

ExCNVSS: A Noise-Robust Method for Copy Number Variation Detection in Whole Exome Sequencing Data
por: Kong, Jinhwa, et al.
Publicado: (2017)

Analysis of copy number variations and possible candidate genes in spontaneous abortion by copy number variation sequencing
por: Bai, Wei, et al.
Publicado: (2023)

inCNV: An Integrated Analysis Tool for Copy Number Variation on Whole Exome Sequencing
por: Chanwigoon, Saowwapark, et al.
Publicado: (2020)

CNVpytor: a tool for copy number variation detection and analysis from read depth and allele imbalance in whole-genome sequencing
por: Suvakov, Milovan, et al.
Publicado: (2021)

ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data
por: Gudkov, Mikhail, et al.
Publicado: (2023)

Copy number variation detection and genotyping from exome sequence data
por: Krumm, Niklas, et al.
Publicado: (2012)

Whole genome sequencing–based copy number variations reveal novel pathways and targets in Alzheimer's disease
por: Ming, Chen, et al.
Publicado: (2021)

EXCAVATOR: detecting copy number variants from whole-exome sequencing data
por: Magi, Alberto, et al.
Publicado: (2013)

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing
por: de Ligt, Joep, et al.
Publicado: (2014)

Identification of Copy Number Variation in Domestic Chicken Using Whole-Genome Sequencing Reveals Evidence of Selection in the Genome
por: Seol, Donghyeok, et al.
Publicado: (2019)

Effective normalization for copy number variation in Hi-C data
por: Servant, Nicolas, et al.
Publicado: (2018)

Mapping copy number variation by population scale genome sequencing
por: Mills, Ryan E., et al.
Publicado: (2011)

Optimizing sparse sequencing of single cells for highly multiplex copy number profiling
por: Baslan, Timour, et al.
Publicado: (2015)

SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing
por: Ding, Qiliang, et al.
Publicado: (2022)

Single-cell copy number variation detection
por: Cheng, Jiqiu, et al.
Publicado: (2011)

Allele-specific copy-number discovery from whole-genome and whole-exome sequencing
por: Wang, WeiBo, et al.
Publicado: (2015)

Identification of Medium-Sized Copy Number Alterations in Whole-Genome Sequencing
por: Ozer, Hatice Gulcin, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_3hql6lb8n59gt3dknvf29s05g4