Exome sequencing and arrayCGH detection of gene sequence and copy number variation between ILS and ISS mouse strains
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 کاملExome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV
MOTIVATION The ability to detect copy-number variation (CNV) and loss of heterozygosity (LOH) from exome sequencing data extends the utility of this powerful approach that has mainly been used for point or small insertion/deletion detection. RESULTS We present ExomeCNV, a statistical method to detect CNV and LOH using depth-of-coverage and B-allele frequencies, from mapped short sequence read...
متن کاملCODEX: a normalization and copy number variation detection method for whole exome sequencing
High-throughput sequencing of DNA coding regions has become a common way of assaying genomic variation in the study of human diseases. Copy number variation (CNV) is an important type of genomic variation, but detecting and characterizing CNV from exome sequencing is challenging due to the high level of biases and artifacts. We propose CODEX, a normalization and CNV calling procedure for whole ...
متن کاملExCNVSS: A Noise-Robust Method for Copy Number Variation Detection in Whole Exome Sequencing Data
Copy number variations (CNVs) are structural variants associated with human diseases. Recent studies verified that disease-related genes are based on the extraction of rare de novo and transmitted CNVs from exome sequencing data. The need for more efficient and accurate methods has increased, which still remains a challenging problem due to coverage biases, as well as the sparse, small-sized, a...
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ژورنال
عنوان ژورنال: Mammalian Genome
سال: 2014
ISSN: 0938-8990,1432-1777
DOI: 10.1007/s00335-014-9502-6