Population-based structural variation discovery with Hydra-Multi

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Genome analysis Population-based structural variation discovery with Hydra-Multi

Summary: Current strategies for SNP and INDEL discovery incorporate sequence alignments from multiple individuals to maximize sensitivity and specificity. It is widely accepted that this approach also improves structural variant (SV) detection. However, multisample SV analysis has been stymied by the fundamental difficulties of SV calling, e.g. library insert size variability, SV alignment sign...

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Population-based structural variation discovery with Hydra-Multi

UNLABELLED Current strategies for SNP and INDEL discovery incorporate sequence alignments from multiple individuals to maximize sensitivity and specificity. It is widely accepted that this approach also improves structural variant (SV) detection. However, multisample SV analysis has been stymied by the fundamental difficulties of SV calling, e.g. library insert size variability, SV alignment si...

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ژورنال

عنوان ژورنال: Bioinformatics

سال: 2014

ISSN: 1460-2059,1367-4803

DOI: 10.1093/bioinformatics/btu771