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Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders

Bioinformatics

Feb 1, 2011

Christian RödelspergerPeter N Robinson

Abstract

Next-generation sequencing and exome-capture technologies are currently revolutionizing the way geneticists screen for disease-causing mutations in rare Mendelian disorders. However, the identification of causal mutations is challenging due to the sheer number of variants that are ident...read more

Mentioned in this Paper

Genome-Wide Association Study
SEL1L gene
IBD2 gene
Candidate Disease Gene
Recombination, Genetic
Inflammatory Bowel Disease 2
Single Nucleotide Polymorphism Database
Conditions, Recessive Genetic
Sequencing
Massively-Parallel Sequencing
Paper Details
References
  • References39
  • Citations22
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  • References39
  • Citations22
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Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders

Bioinformatics

Feb 1, 2011

Christian RödelspergerPeter N Robinson

PMID: 21278187

DOI: 10.1093/bioinformatics/btr022

Abstract

Next-generation sequencing and exome-capture technologies are currently revolutionizing the way geneticists screen for disease-causing mutations in rare Mendelian disorders. However, the identification of causal mutations is challenging due to the sheer number of variants that are ident...read more

Mentioned in this Paper

Genome-Wide Association Study
SEL1L gene
IBD2 gene
Candidate Disease Gene
Recombination, Genetic
Inflammatory Bowel Disease 2
Single Nucleotide Polymorphism Database
Conditions, Recessive Genetic
Sequencing
Massively-Parallel Sequencing

Feeds With Similar Papers

Structural Biology: Biophysics

Structural Biology: Biophysics describes the study of structural biology using various biophysical techiniques such as imaging, computational modeling, etc. Discover the latest research on structrual biology here.

Related Papers

Nature Genetics

Exome sequencing identifies the cause of a mendelian disorder

Nature GeneticsNovember 17, 2009
Sarah B NgMichael J Bamshad
American Journal of Human Genetics

Exome-based mapping and variant prioritization for inherited Mendelian disorders

American Journal of Human GeneticsFebruary 25, 2014
Daniel C KoboldtStephen P Daiger
Paper Details
References
  • References39
  • Citations22
1234
  • References39
  • Citations22
123

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