Detection of copy number variations in epilepsy using exome data
نویسندگان
چکیده
منابع مشابه
Copy number variation detection and genotyping from exome sequence data.
While exome sequencing is readily amenable to single-nucleotide variant discovery, the sparse and nonuniform nature of the exome capture reaction has hindered exome-based detection and characterization of genic copy number variation. We developed a novel method using singular value decomposition (SVD) normalization to discover rare genic copy number variants (CNVs) as well as genotype copy numb...
متن کاملEnhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2
Copy Number Variants (CNVs) are structural rearrangements contributing to phenotypic variation that have been proved to be associated with many disease states. Over the last years, the identification of CNVs from whole-exome sequencing (WES) data has become a common practice for research and clinical purpose and, consequently, the demand for more and more efficient and accurate methods has incr...
متن کاملDeAnnCNV: a tool for online detection and annotation of copy number variations from whole-exome sequencing data
With the decrease in costs, whole-exome sequencing (WES) has become a very popular and powerful tool for the identification of genetic variants underlying human diseases. However, integrated tools to precisely detect and systematically annotate copy number variations (CNVs) from WES data are still in great demand. Here, we present an online tool, DeAnnCNV (Detection and Annotation of Copy Numbe...
متن کاملCNVDetector: locating copy number variations using array CGH data
UNLABELLED CNVDetector is a program for locating copy number variations (CNVs) in a single genome. CNVDetector has several merits: (i) it can deal with the array comparative genomic hybridization data even if the noise is not normally distributed; (ii) it has a linear time kernel; (iii) its parameters can be easily selected; (iv) it evaluates the statistical significance for each CNV calling. ...
متن کاملEstimation of Copy Number Alterations from Exome Sequencing Data
Exome sequencing constitutes an important technology for the study of human hereditary diseases and cancer. However, the ability of this approach to identify copy number alterations in primary tumor samples has not been fully addressed. Here we show that somatic copy number alterations can be reliably estimated using exome sequencing data through a strategy that we have termed exome2cnv. Using ...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2018
ISSN: 0009-9163
DOI: 10.1111/cge.13144