Motivation: Increasingly, cost effective high-throughput DNA sequencing technologies are being utilized to sequence human pedigrees in order to elucidate the genetic cause of a wide variety of human diseases. While numerous tools exist for variant prioritization within a single genome, the ability to concurrently analyze variants within pedigrees remains a challenge, especially should there be no prior indication of the underlying genetic cause of the disease. Here we present a tool, Variant Analysis of Sequenced Pedigrees (VASP), a flexible data integration environment capable of producing a summary of pedigree variation, providing relevant information such as compound heterozygosity, genome phasing, and disease inher-itance patterns. Desi...
Abstract Background Variant interpretation is the mai...
Next Generation Sequencing (NGS) allows sequencing of a human genome within hours, enabling large sc...
The identification of disease-causing variants in autosomal dominant diseases using exome-sequencing...
Motivation: Increasingly, cost-effective high-throughput DNA sequencing technologies are being utili...
Motivation: Increasingly, cost-effective high-throughput DNA sequencing technologies are being utili...
Motivation: Increasingly, cost-effective high-throughput DNA sequencing technologies are being utili...
Motivation: Increasingly, cost-effective high-throughput DNA sequencing technologies are being utili...
Motivation: Increasingly, cost-effective high-throughput DNA sequencing technologies are being utili...
High-throughput sequencing of related individuals has become an important tool for studying human di...
High-throughput sequencing of related individuals has become an important tool for studying human di...
High-throughput sequencing of related individuals has become an important tool for studying human di...
Background: In the course of our whole-genome sequencing efforts, we have developed a pipeline for a...
Background: In the course of our whole-genome sequencing efforts, we have developed a pipeline for a...
peer reviewedHigh-throughput sequencing of related individuals has become an important tool for stud...
Abstract Background High throughput sequencing technologies have been increasingly used in basic gen...
Abstract Background Variant interpretation is the mai...
Next Generation Sequencing (NGS) allows sequencing of a human genome within hours, enabling large sc...
The identification of disease-causing variants in autosomal dominant diseases using exome-sequencing...
Motivation: Increasingly, cost-effective high-throughput DNA sequencing technologies are being utili...
Motivation: Increasingly, cost-effective high-throughput DNA sequencing technologies are being utili...
Motivation: Increasingly, cost-effective high-throughput DNA sequencing technologies are being utili...
Motivation: Increasingly, cost-effective high-throughput DNA sequencing technologies are being utili...
Motivation: Increasingly, cost-effective high-throughput DNA sequencing technologies are being utili...
High-throughput sequencing of related individuals has become an important tool for studying human di...
High-throughput sequencing of related individuals has become an important tool for studying human di...
High-throughput sequencing of related individuals has become an important tool for studying human di...
Background: In the course of our whole-genome sequencing efforts, we have developed a pipeline for a...
Background: In the course of our whole-genome sequencing efforts, we have developed a pipeline for a...
peer reviewedHigh-throughput sequencing of related individuals has become an important tool for stud...
Abstract Background High throughput sequencing technologies have been increasingly used in basic gen...
Abstract Background Variant interpretation is the mai...
Next Generation Sequencing (NGS) allows sequencing of a human genome within hours, enabling large sc...
The identification of disease-causing variants in autosomal dominant diseases using exome-sequencing...