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The number of candidate variants in exome sequencing for Mendelian disease under no genetic heterogeneity

Computational and Mathematical Methods in Medicine

Jun 14, 2013

Jo Nishino, Shuhei Mano

Abstract

There has been recent success in identifying disease-causing variants in Mendelian disorders by exome sequencing followed by simple filtering techniques. Studies generally assume complete or high penetrance. However, there are likely many failed and unpublished studies due in part to in...read more

Mentioned in this Paper

Genetic Conditions, Dominant
Genetic Pedigree
Conditions, Recessive Genetic
Autosomal Dominant Inheritance
Sequencing
Atypical Mycobacteriosis, Familial
Nucleotides
Alleles
Single Nucleotide Polymorphism
Exome
Paper Details
References
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  • Citations1
12
  • References11
  • Citations1
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The number of candidate variants in exome sequencing for Mendelian disease under no genetic heterogeneity

Computational and Mathematical Methods in Medicine

Jun 14, 2013

Jo Nishino, Shuhei Mano

PMID: 23762180

DOI: 10.1155/2013/179761

Abstract

There has been recent success in identifying disease-causing variants in Mendelian disorders by exome sequencing followed by simple filtering techniques. Studies generally assume complete or high penetrance. However, there are likely many failed and unpublished studies due in part to in...read more

Mentioned in this Paper

Genetic Conditions, Dominant
Genetic Pedigree
Conditions, Recessive Genetic
Autosomal Dominant Inheritance
Sequencing
Atypical Mycobacteriosis, Familial
Nucleotides
Alleles
Single Nucleotide Polymorphism
Exome

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.

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References
  • References11
  • Citations1
12
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