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Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders

European Journal of Human Genetics : EJHG

Apr 23, 2015

Robert BrownBogdan Pasaniuc

Abstract

Recent breakthroughs in exome-sequencing technology have made possible the identification of many causal variants of monogenic disorders. Although extremely powerful when closely related individuals (eg, child and parents) are simultaneously sequenced, sequencing of a single case is oft...read more

Mentioned in this Paper

In Silico
Human Genetics
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Whole Exome Sequencing
Sequencing
Filter - Medical Device
Sequence Determinations, DNA
Inheritance Patterns
Structure
Racial Group
15
1
20
Paper Details
References
  • References51
  • Citations4
12345...

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Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders

European Journal of Human Genetics : EJHG

Apr 23, 2015

Robert BrownBogdan Pasaniuc

PMID: 25898925

DOI: 10.1038/ejhg.2015.68

Abstract

Recent breakthroughs in exome-sequencing technology have made possible the identification of many causal variants of monogenic disorders. Although extremely powerful when closely related individuals (eg, child and parents) are simultaneously sequenced, sequencing of a single case is oft...read more

Mentioned in this Paper

In Silico
Human Genetics
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Whole Exome Sequencing
Sequencing
Filter - Medical Device
Sequence Determinations, DNA
Inheritance Patterns
Structure
Racial Group
15
1
20

Similar Papers Found In These Feeds

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.

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

European Journal of Human Genetics : EJHG

Collapsed haplotype pattern method for linkage analysis of next-generation sequence data

European Journal of Human Genetics : EJHGApril 16, 2015
Gao T WangSuzanne M Leal
Médecine sciences : M/S

Exome sequencing applied to monogenic disorders

Médecine sciences : M/SJune 1, 2010
Audrey Criqui, Sylvain Baulande
Paper Details
References
  • References51
  • Citations4
12345...
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