Whole genome and exome sequencing are contributing to the extraordinary progress in the study of human genetic variants. In this fast developing field, appropriate and easily accessible tools are required to facilitate data analysis
Mendelian diseases have shown to be an and efficient model for connecting genotypes to phenotypes an...
Next Generation Sequencing (NGS) allows sequencing of a human genome within hours, enabling large sc...
Motivation: Increasingly, cost-effective high-throughput DNA sequencing technologies are being utili...
Background: Whole genome and exome sequencing are contributing to the extraordinary progress in the ...
Genome and exome sequencing projects produce huge amount of data, which in turns can yield extensive...
In the last decade, the huge decreasing of sequencing cost due to the development of high-throughput...
BACKGROUND: The increasing volume and complexity of high-throughput genomic data make analysis and p...
Abstract Background Variant interpretation is the mai...
CITATION: Glanzmann, B. et al. 2016. A new tool for prioritization of sequence variants from whole e...
Summary: Rapid advances of next generation sequencing technol-ogy have led to the integration of gen...
Abstract Background With the advent of whole exome (ES) and genome sequencing (GS) as tools for dise...
Motivation: Exome sequencing has become a de facto standard method for Mendelian disease gene discov...
Abstract Background High throughput sequencing technologies have been increasingly used in basic gen...
The field of human genetics has evolved at a dramatically fast pace over the past few decades. Break...
Over the last few decades, genomics is leading toward audacious future, and has been changing our vi...
Mendelian diseases have shown to be an and efficient model for connecting genotypes to phenotypes an...
Next Generation Sequencing (NGS) allows sequencing of a human genome within hours, enabling large sc...
Motivation: Increasingly, cost-effective high-throughput DNA sequencing technologies are being utili...
Background: Whole genome and exome sequencing are contributing to the extraordinary progress in the ...
Genome and exome sequencing projects produce huge amount of data, which in turns can yield extensive...
In the last decade, the huge decreasing of sequencing cost due to the development of high-throughput...
BACKGROUND: The increasing volume and complexity of high-throughput genomic data make analysis and p...
Abstract Background Variant interpretation is the mai...
CITATION: Glanzmann, B. et al. 2016. A new tool for prioritization of sequence variants from whole e...
Summary: Rapid advances of next generation sequencing technol-ogy have led to the integration of gen...
Abstract Background With the advent of whole exome (ES) and genome sequencing (GS) as tools for dise...
Motivation: Exome sequencing has become a de facto standard method for Mendelian disease gene discov...
Abstract Background High throughput sequencing technologies have been increasingly used in basic gen...
The field of human genetics has evolved at a dramatically fast pace over the past few decades. Break...
Over the last few decades, genomics is leading toward audacious future, and has been changing our vi...
Mendelian diseases have shown to be an and efficient model for connecting genotypes to phenotypes an...
Next Generation Sequencing (NGS) allows sequencing of a human genome within hours, enabling large sc...
Motivation: Increasingly, cost-effective high-throughput DNA sequencing technologies are being utili...