De Novo mutation Discovery - DND
This page gives access the DND software (written in JAVA)
developed to identify de novo mutations using high-throughput sequencing data
using the relatedness between individuals of a nuclear family. This approach
can also produce direct estimates of the spontaneous mutation rate, the error
rate of the sequencing technology and the population mutation rate.
DND : dnd_v122.zip
Documentation : dndDoc.pdf
(last update : 2011/12/13)
The DND method was introduced in the following papers :
Conrad DF, Keebler JEM, DePristo MA , Lindsay SJ, Zhang Y, Casals F, Idaghdour Y,
Torroja C, Garimella K, Zilversmit M, Cartwright R, Rouleau GA, Daly M, Stone E,
Hurles M, Awadalla P and the 1000 Genomes Project. 2011.
Variation in genome-wide mutation rates within and between human families.
Nature Genetics 43, 712-714
Cartwright R, Hussin J, Keebler J, Stone E, and Awadalla P. 2012.
A family-based probabilistic method for capturing de novo mutations from high-throughput short-read sequencing data.
J Stat Appl Genet Mol Biol Vol. 11 Iss. 2, Article 6.
Contact information (for comments, bugs or questions) : julie.hussin at umontreal.ca
Awadalla lab's homepage