Collaborators: Elaine Gee and Jacob DurtschiCompany: ARUP Laboratories
Project:
ARUP and the SCI Institute are teaming to collaboratively create innovative methods and tools for the understanding of complex genetic information. The focus of this project is the creation of a web-based visualization tool to display Copy Number Variation data (CNVs) detected by next generation sequencing (NGS) methods for clinical NGS laboratory testing. Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals in the human population. This work will result in novel and scalable software that enables efficient interpretation of copy number variants from high throughput NGS data by a domain expert.
Progress:
We have developed a first prototype, enabling dynamic track visualization of various NGS measurements (b-allele frequency, reads, log2 values) in two genome browser-like views. The top frame provides a general view along the chromosomes, while the bottom frame is a zoomed-in view of specific NGS measures along with gene information. CNV measurements (e.g log2 value, quality, ploidy...) are displayed accordingly in a sortable table, with selected rows.
We have developed a first prototype, enabling dynamic track visualization of various NGS measurements (b-allele frequency, reads, log2 values) in two genome browser-like views. The top frame provides a general view along the chromosomes, while the bottom frame is a zoomed-in view of specific NGS measures along with gene information. CNV measurements (e.g log2 value, quality, ploidy...) are displayed accordingly in a sortable table, with selected rows.