New features: Added flag to indicate if a mutation mentioned used 1-letter code. This can be useful for later disambiguation. (E.g., compare Ala123Tyr vs. ambiguous A123T) Arbitrary mutation mentions can now be printed as HGVS compliant mention Normalization to UniProt sequences now possible Resolved bugs: Some mutations had a missing mutation-type or tool Minor problems in normalizatio
International audienceNext Generation Sequencing (NGS) using capture or amplicons strategies allows ...
In mutation testing, faulty versions of a program are generated through automated modifications of s...
Deprecations SimpleInterval and SequenceState are deprecated. They will be removed in VRS 2.0. Maj...
<p><sup>1</sup>Mutation type according to the HGVS nomenclature</p><p>List of tested variants.</p
Bug fixed, improved phasing, and PofO assignment for variants with 1/2 genotype. Making SNVs as defa...
The Human Genome Variation Society (HGVS) nomenclature guidelines encourage the accurate and standar...
Adds read analysis tools for mutation cluster detection and visualization, as well as mutation speci...
The consistent and unambiguous description of sequence variants is essential to report and exchange ...
<p>Y = Yes; N = No. Nomenclature according to HGVS.</p><p>Details of Patients' mutation.</p
Boning up on mutations: assessing the significance of candidate disease-causing DNA sequence variati...
The consistent and unambiguous description of sequence variants is essential to report and exchange ...
Motivation: Frameshifting (FS) indels and nonsense (NS) variants disrupt the protein-coding sequence...
MutationInfo is a python package to extract the position, the reference and the alternative sequence...
Added ability to cluster sequences based on nucleotide sequence rather than translations, useful if ...
Despite of the low occurrence rate in the entire genomes, de novo mutation is proved to be deleterio...
International audienceNext Generation Sequencing (NGS) using capture or amplicons strategies allows ...
In mutation testing, faulty versions of a program are generated through automated modifications of s...
Deprecations SimpleInterval and SequenceState are deprecated. They will be removed in VRS 2.0. Maj...
<p><sup>1</sup>Mutation type according to the HGVS nomenclature</p><p>List of tested variants.</p
Bug fixed, improved phasing, and PofO assignment for variants with 1/2 genotype. Making SNVs as defa...
The Human Genome Variation Society (HGVS) nomenclature guidelines encourage the accurate and standar...
Adds read analysis tools for mutation cluster detection and visualization, as well as mutation speci...
The consistent and unambiguous description of sequence variants is essential to report and exchange ...
<p>Y = Yes; N = No. Nomenclature according to HGVS.</p><p>Details of Patients' mutation.</p
Boning up on mutations: assessing the significance of candidate disease-causing DNA sequence variati...
The consistent and unambiguous description of sequence variants is essential to report and exchange ...
Motivation: Frameshifting (FS) indels and nonsense (NS) variants disrupt the protein-coding sequence...
MutationInfo is a python package to extract the position, the reference and the alternative sequence...
Added ability to cluster sequences based on nucleotide sequence rather than translations, useful if ...
Despite of the low occurrence rate in the entire genomes, de novo mutation is proved to be deleterio...
International audienceNext Generation Sequencing (NGS) using capture or amplicons strategies allows ...
In mutation testing, faulty versions of a program are generated through automated modifications of s...
Deprecations SimpleInterval and SequenceState are deprecated. They will be removed in VRS 2.0. Maj...
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