Summary: Here we present Sequence Variant Analyzer (SVA), a software tool that assigns a predicted biological function to variants identified in next-generation sequencing studies and provides a browser to visualize the variants in their genomic contexts. SVA also provides for flexible interaction with software implementing variant association tests allowing users to consider both the bioinformatic annotation of identified variants and the strength of their associations with studied traits. We illustrate the annotation features of SVA using two simple examples of sequenced genomes that harbor Mendelian mutations. Availability and implementation: Freely available on the web a
Structural variants (SVs) are implicated in the etiology of Mendelian diseases but have been systema...
dissertationDecreasing cost of next-generation sequencing (NGS) has led to its increased usage in he...
peer reviewedUNLABELLED: AnnTools is a versatile bioinformatics application designed for comprehensi...
SUMMARY: Here we present Sequence Variant Analyzer (SVA), a software tool that assigns a predicted b...
SUMMARY: Large-scale human genetics studies are now employing whole genome sequencing with the goal ...
Scientists use DNA sequence differences between an individual's genome and a standard reference geno...
The accurate detection of bona fide causal DNA mutations in a sequenced sample is critical for gene ...
Summary: Rapid advances of next generation sequencing technol-ogy have led to the integration of gen...
wANNOVAR: annotating genetic variants for personal genomes via the web Xiao Chang,1 Kai Wang1,2 Back...
Introduction: With the advent of genomic sequencing, the identification of structural variants (SVs)...
BACKGROUND: Whole genome sequencing is effective at identification of small variants, but because it...
The rapid evolution of Next Generation Sequencing technology will soon make it possible to test pati...
Summary: As sequencing becomes cheaper and more widely available, there is a greater need to quickly...
Elucidating the content of a DNA sequence is critical to deeper understand and decode the genetic in...
Next Generation Sequencing (NGS) allows sequencing of a human genome within hours, enabling large sc...
Structural variants (SVs) are implicated in the etiology of Mendelian diseases but have been systema...
dissertationDecreasing cost of next-generation sequencing (NGS) has led to its increased usage in he...
peer reviewedUNLABELLED: AnnTools is a versatile bioinformatics application designed for comprehensi...
SUMMARY: Here we present Sequence Variant Analyzer (SVA), a software tool that assigns a predicted b...
SUMMARY: Large-scale human genetics studies are now employing whole genome sequencing with the goal ...
Scientists use DNA sequence differences between an individual's genome and a standard reference geno...
The accurate detection of bona fide causal DNA mutations in a sequenced sample is critical for gene ...
Summary: Rapid advances of next generation sequencing technol-ogy have led to the integration of gen...
wANNOVAR: annotating genetic variants for personal genomes via the web Xiao Chang,1 Kai Wang1,2 Back...
Introduction: With the advent of genomic sequencing, the identification of structural variants (SVs)...
BACKGROUND: Whole genome sequencing is effective at identification of small variants, but because it...
The rapid evolution of Next Generation Sequencing technology will soon make it possible to test pati...
Summary: As sequencing becomes cheaper and more widely available, there is a greater need to quickly...
Elucidating the content of a DNA sequence is critical to deeper understand and decode the genetic in...
Next Generation Sequencing (NGS) allows sequencing of a human genome within hours, enabling large sc...
Structural variants (SVs) are implicated in the etiology of Mendelian diseases but have been systema...
dissertationDecreasing cost of next-generation sequencing (NGS) has led to its increased usage in he...
peer reviewedUNLABELLED: AnnTools is a versatile bioinformatics application designed for comprehensi...