Reducing the search space for causal genetic variants with VASP
Download (83.77 kB)
-
Altmetric Citations
Field, Matthew; Cho, Eun; Cook, Matthew; Enders, Anselm; Garcia De Vinuesa, Maria Carola; Whittle, Belinda; Andrews, Dan; Goodnow, Christopher
Description
Motivation: Increasingly, cost-effective high-throughput DNA sequencing technologies are being utilized to sequence human pedigrees to elucidate the genetic cause of a wide variety of human diseases. While numerous tools exist for variant prioritization within a single genome, the ability to concurrently analyze variants within pedigrees remains a challenge, especially should there be no prior indication of the underlying genetic cause of the disease. Here, we present a tool, variant analysis...[Show more]
Collections | ANU Research Publications |
---|---|
Date published: | 2015 |
Type: | Journal article |
URI: | http://hdl.handle.net/1885/52343 |
Source: | Bioinformatics |
DOI: | 10.1093/bioinformatics/btv135 |
Download
File | Description | Size | Format | Image |
---|---|---|---|---|
01_Field_Reducing_the_search_space_for_2015.pdf | 83.77 kB | Adobe PDF |
Items in Open Research are protected by copyright, with all rights reserved, unless otherwise indicated.
Updated: 17 November 2022/ Responsible Officer: University Librarian/ Page Contact: Library Systems & Web Coordinator