Supported Queries#

This section describes the queries that are supported by REEV.

Genes#

Gene queries in REEV allow users to search by HGNC symbol or NCBI/ENSEMBL/HGNC ID. Examples of gene queries include:

  • BRCA1: Search by HGNC symbol.

  • HGNC:1100: This refers to the HGNC ID for the BRCA1 gene.

  • 7273: This is the NCBI ID for the TTN gene.

Sequence Variants#

Sequence variant queries in REEV can be provided in HGVS notation, gnomAD style, or SPDI-style. Examples include:

  • NM_007294.4(BRCA1):c.5123C>A: HGVS transcript SNV.

  • NM_000179.3:c.4082del: HGVS transcript deletion.

  • NC_000017.10:g.41197728G>T: HGVS genomic SNV.

  • GRCh37-chr17-41197751-G-T: gnomAD style variant.

  • NC_000017.11:43039470:G:A: Canonical SPDI.

Structural Variants#

Structural variant queries in REEV can be provided in various formats including ISCN notation, colon-separated, or hyphen-separated formats. Examples include:

  • DEL:chr17:41176312:41277500: Deletion on chromosome 17.

  • DUP-chrX-73565114-73956354: Duplication on chromosome X.

  • arr[GRCh37] 7q11(72,650,120_74,154,209)x1: ISCN notation.

  • GRCh37 7q11(72,650,120_74,154,209)x1: Shorter form of ISCN notation.