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Detection and quantification of mitochondrial DNA deletions from next-generation sequence data

BMC Bioinformatics

Oct 27, 2017

Colleen M BosworthThomas LaFramboise

Abstract

Chromosomal deletions represent an important class of human genetic variation. Various methods have been developed to mine "next-generation" sequencing (NGS) data to detect deletions and quantify their clonal abundances. These methods have focused almost exclusively on the nuclear genom...read more

Mentioned in this Paper

In Silico
Size
Genome
DNA, Mitochondrial
Human Genetics
Brain
Gene Deletion Abnormality
Gene Deletion
Chromosome Deletion
Special Care (pharmacologic substance)
6
1
40
Paper Details
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Detection and quantification of mitochondrial DNA deletions from next-generation sequence data

BMC Bioinformatics

Oct 27, 2017

Colleen M BosworthThomas LaFramboise

PMID: 29072135

DOI: 10.1186/s12859-017-1821-7

Abstract

Chromosomal deletions represent an important class of human genetic variation. Various methods have been developed to mine "next-generation" sequencing (NGS) data to detect deletions and quantify their clonal abundances. These methods have focused almost exclusively on the nuclear genom...read more

Mentioned in this Paper

In Silico
Size
Genome
DNA, Mitochondrial
Human Genetics
Brain
Gene Deletion Abnormality
Gene Deletion
Chromosome Deletion
Special Care (pharmacologic substance)
6
1
40

Similar Papers Found In These Feeds

Chromosomal Deletion

Chromosomal deletion includes the loss of a gene sequence of DNA. The location and the genes deleted determines the significance of this abnormality. There are many identified genetic disorders that are a result from chromosomal deletion including cri du chat and Prader-Willi syndrome. Discover the latest research on chromosomal deletions here.

Neural Networks

Here is the latest research on physiological and in silico networks and circuits implicated in the nervous system.

Related Papers

Methods in Molecular Biology

Comprehensive Mitochondrial Genome Analysis by Massively Parallel Sequencing

Methods in Molecular BiologyNovember 5, 2015
Meagan E PalculictJing Wang
Nature Methods

Representing genetic variation with synthetic DNA standards

Nature MethodsAugust 10, 2016
Ira W DevesonTim R Mercer
Paper Details
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  • References
  • Citations1
  • finger pointing at paper

    References currently unavailable

    We're still populating references for this paper, please check back later.
  • References
  • Citations1
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