Add to ORKGAbstract. Genomic variant analysis is a complex process that allows to find and study genome mutations. For this purpose, analysis and tests from both biological and statistical points of view must be conducted. Biological data for this kind of analysis are typically stored according to the Variant Call Format (VCF), in gigabytes-sized files that cannot be efficiently processed using conventional software. In this paper, we introduce part of the High Performance Genomics (HPG) project, whose goal is to develop a collection of efficient and open-source software applications for the genomics area. The paper is mainly focused on HPG Variant, a suite that allows to get the effect of mutations and to conduct genomic-wide and family-based analysi...
Background: Since the advent of next-generation sequencing many previously untestable hypotheses hav...
Genome and exome sequencing projects produce huge amount of data, which in turns can yield extensive...
Following variant calling and annotation, accurate variant filtering is a crucial step to extract me...
Background: Genomic information is increasingly used in medical practice giving rise to the need for...
In this article, we introduce the variant call format–diagnostic annotation and reporting tool (VCF-...
The accurate detection of bona fide causal DNA mutations in a sequenced sample is critical for gene ...
International audienceVariant interpretation in the era of massively parallel sequencing is challeng...
Background: Genomic information is increasingly used in medical practice giving rise to the need for...
Abstract Background High throughput sequencing technologies have been increasingly used in basic gen...
Ever since the completion of the Human Genome Project in 2003, the human genome has been represented...
Background: Genomic information is increasingly used in medical practice giving rise to the need for...
Background: Next Generation Genome sequencing techniques became affordable for massive sequencing ef...
Population scale sequencing of whole human genomes is becoming economically feasible; however, data ...
Abstract Background The advent of modern high-throughput genetics continually broadens the gap betwe...
<p>Presentation at Genome Informatics 2013:</p> <p> </p> <p>Translational research relies on accurat...
Background: Since the advent of next-generation sequencing many previously untestable hypotheses hav...
Genome and exome sequencing projects produce huge amount of data, which in turns can yield extensive...
Following variant calling and annotation, accurate variant filtering is a crucial step to extract me...
Background: Genomic information is increasingly used in medical practice giving rise to the need for...
In this article, we introduce the variant call format–diagnostic annotation and reporting tool (VCF-...
The accurate detection of bona fide causal DNA mutations in a sequenced sample is critical for gene ...
International audienceVariant interpretation in the era of massively parallel sequencing is challeng...
Background: Genomic information is increasingly used in medical practice giving rise to the need for...
Abstract Background High throughput sequencing technologies have been increasingly used in basic gen...
Ever since the completion of the Human Genome Project in 2003, the human genome has been represented...
Background: Genomic information is increasingly used in medical practice giving rise to the need for...
Background: Next Generation Genome sequencing techniques became affordable for massive sequencing ef...
Population scale sequencing of whole human genomes is becoming economically feasible; however, data ...
Abstract Background The advent of modern high-throughput genetics continually broadens the gap betwe...
<p>Presentation at Genome Informatics 2013:</p> <p> </p> <p>Translational research relies on accurat...
Background: Since the advent of next-generation sequencing many previously untestable hypotheses hav...
Genome and exome sequencing projects produce huge amount of data, which in turns can yield extensive...
Following variant calling and annotation, accurate variant filtering is a crucial step to extract me...