Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.
- Birgit Sikkema-Raddatz, Lennart F Johansson, +8 authors Richard J Sinke
- Human mutation
- 2013
Highly Influenced
4 Excerpts
Disease gene identification strategies for exome sequencing
- Published 2012 in European Journal of Human Genetics
Abstract
Next generation sequencing can be used to search for Mendelian disease genes in an unbiased manner by sequencing the entire protein-coding sequence, known as the exome, or even the entire human genome. Identifying the pathogenic mutation amongst thousands to millions of genomic variants is a major challenge, and novel variant prioritization strategies are… (More)