Sentence examples for mutation annotation from inspiring English sources

mutation annotation format.

Mutation annotation format (MAF) files were manipulated in R Studio (Mac) 0.99.484 (rstudio.com).

Called somatic mutations were downloaded from the TCGA data portal in mutation annotation format (MAF) and unique loci were identified and scored based on frequency and distribution across the whole dataset (n = 519).

List of genes used during mutation annotation with SnpEff.

The human reference genome used for mutation annotation was build 36 version 2, NC_000010.9.

The somatic mutation data were obtained in the form of the mutation annotation format (MAF) file.

It delivers the protein mutation annotations, their position in text and information about the mutated and wild types.

The frequency of unresolved mutation annotations varied widely among the databases, ranging from 4 to 23%.

Nonetheless, in aggregate there were several thousand mutation annotations that did not pass a simple syntactic verification procedure even after allowances were made for isoforms, signal peptide sequence and the use of gene symbol aliases rather than the standard nomenclature.

For example, the annotation of the sentence 'a c.1864C > A transversion in exon 12 of hMSH2 gene at the heterozygous state … leading to a proline 622 to threonine (p.Pro622Thr) amino acid substitution', with two mutation annotations indicated with underlining, would correspond to values in database fields for the gene (hMSH2), exon (12), variant (c.1864C > A) and protein change (p.Pro622Thr).

For each mutation, annotations are displayed, such as the affected gene, the position in the genome, the type (for example, substitution), the effect (for example, missense or intron), and the influence on the protein sequence (for example, p.Y58F means, that the Tyrosine residue at position 58 is substituted by a Phenylalanine).