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An automatic and efficient pipeline for disease gene identification through utilizing family-based sequencing data

Bio-medical Materials and Engineering

Sep 26, 2015

Dandan SongLejian Liao

Abstract

Due to the generation of enormous amounts of data at both lower costs as well as in shorter times, whole-exome sequencing technologies provide dramatic opportunities for identifying disease genes implicated in Mendelian disorders. Since upwards of thousands genomic variants can be seque...read more

Mentioned in this Paper

Freeman-Sheldon Syndrome
Study
Neurologic Manifestations
Genome
Genes
Pathogenic Organism
Candidate Disease Gene
Nucleic Acid Sequencing
Candidate Gene Identification
Whole Exome Sequencing
3
5
Paper Details
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An automatic and efficient pipeline for disease gene identification through utilizing family-based sequencing data

Bio-medical Materials and Engineering

Sep 26, 2015

Dandan SongLejian Liao

PMID: 26405949

DOI: 10.3233/bme-151481

Abstract

Due to the generation of enormous amounts of data at both lower costs as well as in shorter times, whole-exome sequencing technologies provide dramatic opportunities for identifying disease genes implicated in Mendelian disorders. Since upwards of thousands genomic variants can be seque...read more

Mentioned in this Paper

Freeman-Sheldon Syndrome
Study
Neurologic Manifestations
Genome
Genes
Pathogenic Organism
Candidate Disease Gene
Nucleic Acid Sequencing
Candidate Gene Identification
Whole Exome Sequencing
3
5

Similar Papers Found In These Feeds

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

BMC Genomics

Identifying Mendelian disease genes with the variant effect scoring tool

BMC GenomicsJuly 17, 2013
Hannah CarterRachel Karchin
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