The Human Genome Variation Society (HGVS) nomenclature guidelines encourage the accurate and standard description of DNA, RNA, and protein sequence variants in public variant databases and the scientific literature. Inconsistent application of the HGVS guidelines can lead to misinterpretation of variants in clinical settings. Reliable software tools are essential to ensure consistent application of the HGVS guidelines when reporting and interpreting variants. We present the hgvs Python package, a comprehensive tool for manipulating sequence variants according to the HGVS nomenclature guidelines. Distinguishing features of the hgvs package include: (1) parsing, formatting, validating, and normalizing variants on genome, transcript, and prote...
International audienceAs our knowledge of the complexity of gene architecture grows, and we increase...
Abstract Background Reference genome selection is a prerequisite for successful analysis of next gen...
Abstract Background High throughput sequencing technologies have been increasingly used in basic gen...
The Human Genome Variation Society (HGVS) nomenclature guidelines encourage the accurate and standar...
The Human Genome Variation Society (HGVS) variant nomenclature is widely used to describe sequence v...
The consistent and unambiguous description of sequence variants is essential to report and exchange ...
The consistent and unambiguous description of sequence variants is essential to report and exchange ...
Motivation: Unambiguous sequence variant descriptions are important in reporting the outcome of clin...
High-profile genomic variation projects like the 1000 Genomes project or the Exome Aggregation Conso...
Summary: Accurate annotations of genomic variants are necessary to achieve full-genome clinical inte...
Motivation: Unambiguous variant descriptions are of utmost importance in clinical genetic diagnostic...
BACKGROUND: With the recent growth of information on sequence variations in the human genome, predic...
BACKGROUND The use of a standard human sequence variant nomenclature is advocated by the Human Genom...
With the recent growth of information on sequence variations in the human genome, predictions regard...
ABSTRACT : As our knowledge of the complexity of gene architecture grows, and we increase our unders...
International audienceAs our knowledge of the complexity of gene architecture grows, and we increase...
Abstract Background Reference genome selection is a prerequisite for successful analysis of next gen...
Abstract Background High throughput sequencing technologies have been increasingly used in basic gen...
The Human Genome Variation Society (HGVS) nomenclature guidelines encourage the accurate and standar...
The Human Genome Variation Society (HGVS) variant nomenclature is widely used to describe sequence v...
The consistent and unambiguous description of sequence variants is essential to report and exchange ...
The consistent and unambiguous description of sequence variants is essential to report and exchange ...
Motivation: Unambiguous sequence variant descriptions are important in reporting the outcome of clin...
High-profile genomic variation projects like the 1000 Genomes project or the Exome Aggregation Conso...
Summary: Accurate annotations of genomic variants are necessary to achieve full-genome clinical inte...
Motivation: Unambiguous variant descriptions are of utmost importance in clinical genetic diagnostic...
BACKGROUND: With the recent growth of information on sequence variations in the human genome, predic...
BACKGROUND The use of a standard human sequence variant nomenclature is advocated by the Human Genom...
With the recent growth of information on sequence variations in the human genome, predictions regard...
ABSTRACT : As our knowledge of the complexity of gene architecture grows, and we increase our unders...
International audienceAs our knowledge of the complexity of gene architecture grows, and we increase...
Abstract Background Reference genome selection is a prerequisite for successful analysis of next gen...
Abstract Background High throughput sequencing technologies have been increasingly used in basic gen...