Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline.

ABSTRACT: Whole-genome sequencing (WGS) studies are uncovering disease-associated variants in both rare and nonrare diseases. Utilizing the next-generation sequencing for WGS requires a series of computational methods for alignment, variant detection, and annotation, and the accuracy and reproducibility of annotation results are essential for clinical implementation. However, annotating WGS with up to date genomic information is still challenging for biomedical researchers. Here, we present one of the fastest and highly scalable annotation, filtering, and analysis pipeline-gNOME-to prioritize phenotype-associated variants while minimizing false-positive findings. Intuitive graphical user interface of gNOME facilitates the selection of phenotype-associated variants, and the result summaries are provi

SUBMITTER: Lee IH 

PROVIDER: S-EPMC4130156 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature