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Article

MetaSV: an accurate and integrative structural-variant caller for next generation sequencing.

Bioinformatics (Oxford, England) - 15 Aug 2015

Mohiyuddin Marghoob, Mu John C, Li Jian, Bani Asadi Narges, Gerstein Mark B, Abyzov Alexej, Wong Wing H, Lam Hugo Y K

Abstract excerpt

UNLABELLED: Structural variations (SVs) are large genomic rearrangements that vary significantly in size, making them challenging to detect with the relatively short reads from next-generation sequencing (NGS). Different SV detection methods have been developed; however, each is limited to specific kinds of SVs with varying accuracy and resolution. Previous works have attempted to combine different methods, but...

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Genetic Variation
High-Throughput Nucleotide Sequencing
Mutagenesis, Insertional
Sequence Deletion
Software

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PMID: 25861968
DOI: 10.1093/bioinformatics/btv204
PMCID: PMC4528635

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