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Indel variant analysis of short-read sequencing data with Scalpel

Nature Protocols

Nov 18, 2016

Han FangGiuseppe Narzisi

Abstract

As the second most common type of variation in the human genome, insertions and deletions (indels) have been linked to many diseases, but the discovery of indels of more than a few bases in size from short-read sequencing data remains challenging. Scalpel (http://scalpel.sourceforge.net...read more

Mentioned in this Paper

Computer Software
Study
Size
Genome
Scalpel
Candidate Disease Gene
Gene Deletion
Nucleic Acid Sequencing
Autistic Disorder
Whole Exome Sequencing
39
88
Paper Details
References
  • References47
  • Citations6
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  • References47
  • Citations6
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Indel variant analysis of short-read sequencing data with Scalpel

Nature Protocols

Nov 18, 2016

Han FangGiuseppe Narzisi

PMID: 27854363

DOI: 10.1038/nprot.2016.150

Abstract

As the second most common type of variation in the human genome, insertions and deletions (indels) have been linked to many diseases, but the discovery of indels of more than a few bases in size from short-read sequencing data remains challenging. Scalpel (http://scalpel.sourceforge.net...read more

Mentioned in this Paper

Computer Software
Study
Size
Genome
Scalpel
Candidate Disease Gene
Gene Deletion
Nucleic Acid Sequencing
Autistic Disorder
Whole Exome Sequencing
39
88

Similar Papers Found In These Feeds

Autism

Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research.

Comparative Sequencing

Inter/Intra-Species: Comparative Sequencing describes the sequencing techniques that compare between and within species genomes. Discover the latest research on comparative sequencing of inter/intra-species here.

Paper Details
References
  • References47
  • Citations6
12345
  • References47
  • Citations6
1
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