Add to ORKGSummary: Rapid advances of next generation sequencing technol-ogy have led to the integration of genetic information with clinical care. Genetic basis of diseases and response to drugs provide new ways of disease diagnosis and safer drug usage. This integration reveals the urgent need for effective and accurate tools to analyze genetic variants. Due to the number and diversity of sources for annotation, automating variant analysis is a challenging task. Here we present database.bio, a web application that combines variant annotation, prioritization, and visualization so as to support insight into the individual genetic characteristics. It enhances annotation speed by preprocessing data on a supercomputer, and reduces database space via a un...
The field of human genetics has evolved at a dramatically fast pace over the past few decades. Break...
Disease-specific genetic information has been increasing at rapid rates as a consequence of recent i...
Background: Precision medicine requires the tight integration of clinical and molecular data. To thi...
Next Generation Sequencing (NGS) allows sequencing of a human genome within hours, enabling large sc...
wANNOVAR: annotating genetic variants for personal genomes via the web Xiao Chang,1 Kai Wang1,2 Back...
Clinical genetic testing has undergone a dramatic transformation in the past two decades. Diagnostic...
Whole genome and exome sequencing are contributing to the extraordinary progress in the study of hum...
Summary: Accurate annotations of genomic variants are necessary to achieve full-genome clinical inte...
Genome and exome sequencing projects produce huge amount of data, which in turns can yield extensive...
Efficient tools for data management and integration are essential for many aspects of high-throughpu...
Abstract Background With the advent of whole exome (ES) and genome sequencing (GS) as tools for dise...
Abstract Background Variant interpretation is the mai...
In this article, we introduce the variant call format–diagnostic annotation and reporting tool (VCF-...
Summary: Here we present Sequence Variant Analyzer (SVA), a software tool that assigns a predicted b...
Genetics is concerned with inheritance, genomics with the study of genomes. Bioinformatics provides ...
The field of human genetics has evolved at a dramatically fast pace over the past few decades. Break...
Disease-specific genetic information has been increasing at rapid rates as a consequence of recent i...
Background: Precision medicine requires the tight integration of clinical and molecular data. To thi...
Next Generation Sequencing (NGS) allows sequencing of a human genome within hours, enabling large sc...
wANNOVAR: annotating genetic variants for personal genomes via the web Xiao Chang,1 Kai Wang1,2 Back...
Clinical genetic testing has undergone a dramatic transformation in the past two decades. Diagnostic...
Whole genome and exome sequencing are contributing to the extraordinary progress in the study of hum...
Summary: Accurate annotations of genomic variants are necessary to achieve full-genome clinical inte...
Genome and exome sequencing projects produce huge amount of data, which in turns can yield extensive...
Efficient tools for data management and integration are essential for many aspects of high-throughpu...
Abstract Background With the advent of whole exome (ES) and genome sequencing (GS) as tools for dise...
Abstract Background Variant interpretation is the mai...
In this article, we introduce the variant call format–diagnostic annotation and reporting tool (VCF-...
Summary: Here we present Sequence Variant Analyzer (SVA), a software tool that assigns a predicted b...
Genetics is concerned with inheritance, genomics with the study of genomes. Bioinformatics provides ...
The field of human genetics has evolved at a dramatically fast pace over the past few decades. Break...
Disease-specific genetic information has been increasing at rapid rates as a consequence of recent i...
Background: Precision medicine requires the tight integration of clinical and molecular data. To thi...