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Identification and prioritisation of causal variants in human genetic disorders from exome or whole genome sequencing data

bioRxiv

Oct 29, 2017

Nagarajan ParamasivamMatthias Schlesner

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Abstract

With genome sequencing entering the clinics as a diagnostic tool to study genetic disorders, there is an increasing need for bioinformatics solutions that enable precise causal variant identification in a timely manner. Background: Workflows for the identification of candidate disease-c...read more

Mentioned in this Paper

Genetic Analysis
Gene Polymorphism
Study
Neurodevelopmental Disorders
Gene Mutant
Genome Sequencing
Whole Genome Sequencing
Genetic Polymorphism
Genetic Pedigree
Bio-Informatics
17
9
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Identification and prioritisation of causal variants in human genetic disorders from exome or whole genome sequencing data

bioRxiv

Oct 29, 2017

Nagarajan ParamasivamMatthias Schlesner

DOI: 10.1101/209882

Abstract

With genome sequencing entering the clinics as a diagnostic tool to study genetic disorders, there is an increasing need for bioinformatics solutions that enable precise causal variant identification in a timely manner. Background: Workflows for the identification of candidate disease-c...read more

Mentioned in this Paper

Genetic Analysis
Gene Polymorphism
Study
Neurodevelopmental Disorders
Gene Mutant
17
9

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