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svclassify: a method to establish benchmark structural variant calls

BMC Genomics

Jan 16, 2016

Hemang ParikhMarc L Salit

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Abstract

The human genome contains variants ranging in size from small single nucleotide polymorphisms (SNPs) to large structural variants (SVs). High-quality benchmark small variant calls for the pilot National Institute of Standards and Technology (NIST) Reference Material (NA12878) have been ...read more

Mentioned in this Paper

Centaurea cyanus
Polymerase Chain Reaction
Validation
Spiral Shape
Gene Mutant
Microscopy, Fluorescence
Single Nucleotide Polymorphism
Genetic Pedigree
Genome
Classification
14
113
Paper Details
References
  • References14
  • Citations9

svclassify: a method to establish benchmark structural variant calls

BMC Genomics

Jan 16, 2016

Hemang ParikhMarc L Salit

PMID: 26772178

DOI: 10.1186/s12864-016-2366-2

Abstract

The human genome contains variants ranging in size from small single nucleotide polymorphisms (SNPs) to large structural variants (SVs). High-quality benchmark small variant calls for the pilot National Institute of Standards and Technology (NIST) Reference Material (NA12878) have been ...read more

Mentioned in this Paper

Centaurea cyanus
Polymerase Chain Reaction
Validation
Spiral Shape
Gene Mutant
14
113

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Paper Details
References
  • References14
  • Citations9

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