Package: GDSAnnotator 0.99.1

GDSAnnotator: Whole-genome variant annotation data manipulation using GDS files

Fast and memory-efficient manipulation of whole-genome variant annotation data stored in Genomic Data Structure (GDS) files. The annotated GDS (aGDS) format introduced by FAVOR stores the FAVOR annotations of the variants together with the genotypes in one SeqArray GDS file. This package generalizes the format to annotation GDS files of any source, with or without genotypes. Annotation resources and annotator outputs, including FAVOR, gnomAD, Ensembl VEP and SnpEff, are converted into compact SeqArray-compatible GDS files with random access. Variants can be given as chr-pos-ref-alt strings, data frames, GRanges objects, VCF files or objects, or SeqArray GDS files. They are annotated by querying the annotation files, and the annotations can be written back into a genotype GDS file. Summary statistics of the variants and their annotations are computed in a single pass over a file and rendered as a VEP/SnpEff-like report. The package is intended for large-scale whole-genome sequencing studies.

Authors:Xiuwen Zheng [aut, cre], Yuantao Chen [ctb], Hufeng Zhou [ctb]