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Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing

PloS One

Feb 22, 2012

Degui Zhi, Rui Chen

Abstract

Recently, whole-genome sequencing, especially exome sequencing, has successfully led to the identification of causal mutations for rare monogenic Mendelian diseases. However, it is unclear whether this approach can be generalized and effectively applied to other Mendelian diseases with ...read more

Mentioned in this Paper

Chromosome 11p Deletion Syndrome
Genome-Wide Association Study
Genee-Wiedemann Syndrome
ATM wt Allele
Exons
Genome
Dihydroorotate dehydrogenase
Candidate Disease Gene
Bio-Informatics
Etiology
1
1
153
Paper Details
References
  • References31
  • Citations14
1234
  • References31
  • Citations14
12

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Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing

PloS One

Feb 22, 2012

Degui Zhi, Rui Chen

PMID: 22348076

DOI: 10.1371/journal.pone.0031358

Abstract

Recently, whole-genome sequencing, especially exome sequencing, has successfully led to the identification of causal mutations for rare monogenic Mendelian diseases. However, it is unclear whether this approach can be generalized and effectively applied to other Mendelian diseases with ...read more

Mentioned in this Paper

Chromosome 11p Deletion Syndrome
Genome-Wide Association Study
Genee-Wiedemann Syndrome
ATM wt Allele
Exons
Genome
Dihydroorotate dehydrogenase
Candidate Disease Gene
Bio-Informatics
Etiology
1
1
153

Feeds With Similar Papers

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.

Related Papers

Brain : a Journal of Neurology

Another locus, a new method

Brain : a Journal of NeurologyDecember 4, 2010
A B Singleton, J Raphael Gibbs
Paper Details
References
  • References31
  • Citations14
1234
  • References31
  • Citations14
12

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