The theory of discovering rare variants via DNA sequencing
Open Access
- 1 January 2009
- journal article
- research article
- Published by Springer Nature in BMC Genomics
- Vol. 10 (1) , 485
- https://doi.org/10.1186/1471-2164-10-485
Abstract
Rare population variants are known to have important biomedical implications, but their systematic discovery has only recently been enabled by advances in DNA sequencing. The design process of a discovery project remains formidable, being limited to ad hoc mixtures of extensive computer simulation and pilot sequencing. Here, the task is examined from a general mathematical perspective.Keywords
This publication has 21 references indexed in Scilit:
- Evaluation of next generation sequencing platforms for population targeted sequencing studiesGenome Biology, 2009
- A large genome center's improvements to the Illumina sequencing systemNature Methods, 2008
- Aspects of coverage in medical DNA sequencingBMC Bioinformatics, 2008
- The complete genome of an individual by massively parallel DNA sequencingNature, 2008
- PolyScan: An automatic indel and SNP detection approach to the analysis of human resequencing dataGenome Research, 2007
- A haplotype map of the human genomeNature, 2005
- Deeper into the genomeNature, 2005
- Patterns of Genetic Variation in Mendelian and Complex TraitsAnnual Review of Genomics and Human Genetics, 2000
- Population genetics—making sense out of sequenceNature Genetics, 1999