Publication date
May 2016
DOIAbstract
iAnnotateSV is a Python library and command-line software toolkit to annotate and visualize structural variants detected from Next Generation DNA sequencing data
iAnnotateSV is a Python library and command-line software toolkit to annotate and visualize structural variants detected from Next Generation DNA sequencing data
Summary: Thousands of cancer exomes are currently being sequenced, yielding millions of non-synonymo...
The Human Genome Variation Society (HGVS) nomenclature guidelines encourage the accurate and standar...
peer reviewedUNLABELLED: AnnTools is a versatile bioinformatics application designed for comprehensi...
iCallSV is a Python library and command-line software toolkit to call structural aberrations from Ne...
Did not assign intron number properly in some cases and that might give wrong annotatio
International audienceMuch of the human genetics variant repertoire is composed of single nucleotide...
With the dramatic increase of pangenomic analysis, Human geneticists have generated large amount of ...
The accurate detection of bona fide causal DNA mutations in a sequenced sample is critical for gene ...
Summary: Copy number variants (CNVs) are a major source of genetic variation. Comparing CNVs between...
Recent advances in high-throughput sequencing (HTS) technologies and computing capacity have produce...
Structural Variations (SV) are a major source of variability in the human genome that shaped its act...
Over the years, researchers have revealed that all kind of DNA variations play a role in the suscept...
Summary: Here we present Sequence Variant Analyzer (SVA), a software tool that assigns a predicted b...
MutationInfo is a python package to extract the position, the reference and the alternative sequence...
Summary: Copy number variants (CNVs) are a major source of gen-etic variation. Comparing CNVs betwee...
Summary: Thousands of cancer exomes are currently being sequenced, yielding millions of non-synonymo...
The Human Genome Variation Society (HGVS) nomenclature guidelines encourage the accurate and standar...
peer reviewedUNLABELLED: AnnTools is a versatile bioinformatics application designed for comprehensi...
iCallSV is a Python library and command-line software toolkit to call structural aberrations from Ne...
Did not assign intron number properly in some cases and that might give wrong annotatio
International audienceMuch of the human genetics variant repertoire is composed of single nucleotide...
With the dramatic increase of pangenomic analysis, Human geneticists have generated large amount of ...
The accurate detection of bona fide causal DNA mutations in a sequenced sample is critical for gene ...
Summary: Copy number variants (CNVs) are a major source of genetic variation. Comparing CNVs between...
Recent advances in high-throughput sequencing (HTS) technologies and computing capacity have produce...
Structural Variations (SV) are a major source of variability in the human genome that shaped its act...
Over the years, researchers have revealed that all kind of DNA variations play a role in the suscept...
Summary: Here we present Sequence Variant Analyzer (SVA), a software tool that assigns a predicted b...
MutationInfo is a python package to extract the position, the reference and the alternative sequence...
Summary: Copy number variants (CNVs) are a major source of gen-etic variation. Comparing CNVs betwee...
Summary: Thousands of cancer exomes are currently being sequenced, yielding millions of non-synonymo...
The Human Genome Variation Society (HGVS) nomenclature guidelines encourage the accurate and standar...
peer reviewedUNLABELLED: AnnTools is a versatile bioinformatics application designed for comprehensi...
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