Sentence examples similar to variant nomenclatures from inspiring English sources

Splice variant nomenclature is presented as in Carlsson et al. [ 25].

Variant nomenclature is according to the recommendations of the Human Genome Variation Society (http://www.hgvs.org/mutnomen/).hgvs.org/mutnomen/

We named this subtype H2A.Z.7 according to new histone variant nomenclature [ 42].

A crucial element of variant nomenclature is the reference DNA sequence with respect to which a variant is described.

A standard gene variant nomenclature (http://www.hgvs.org/mutnomen) is maintained and versioned by the Human Genome Variation Society (HGVS) and its use is recommended as the primary guideline for determining variant nomenclature except as noted.

Mutalyzer is a tool primarily designed to check descriptions of sequence variants according to the standard human sequence variant nomenclature of HGVS.

To comply with sequence variant nomenclature according to the guidelines of the Human Genome Variation Society, the online batch position check tool Mutalyzer 2.0 (http://www.mutalyzer.nl/) was used to confirm genomic position of all SPRED1 gene variants (Wildeman et al. 2008).

We hope that widespread adoption of LRGs - which will be created and maintained by the NCBI and the European Bioinformatics Institute (EBI) - along with consistent use of the Human Genome Variation Society (HGVS -approved variant nomenclature will reduce errors in tHGVS -approvedf variants inomenclatureture and improve communication about variants affecting human health.

The protein symbol and variant nomenclature used is in accordance with the Human Genome Variation Society HGVSS, http://www.hgvs.org) and the HUGO Gene Nomenclature Committee (HGNC, http://www.genenames.org), with one exception: we initially identify Protein Kinase A (PKA) with both the HGNC approved name (PRKCA) and the common abbreviation PKA, but subsequently use the common abbreviation alone.

Our aim was to standardize and facilitate IT-based mutation analysis by using Human Genome Variation Society (HGVS -approved variant nomenclature (wHGVS -approved become the worldwide standard), employing servarianted retrieval/processinomenclaturerting results as concise predictions in both tabular and sequence whichr display formats.

Many hsp70 genes have been reported, generating a confusing array of data, variants, and nomenclatures in databases and printed literature.