BCCGN aims to educate clinical researchers about genomics technologies and their use in studying disease. This section provides a list of peer reviewed scientific papers, news articles and some technology information sheets that are useful starting points for clinical researchers who are interested in learning more.
Next generation sequencing
- Next-generation sequencing transforms today’s biology
- Next generation DNA sequencing methods
- The complete genome of an individual by massively parallel DNA sequencing
- A map of human genome variation from population-scale sequencing.
- DNA Sequencing Caught in a Deluge of Data
Technology and clinical practice
- The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility
- Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
- Global variation in copy number in the human genome
Methodology and statistical approaches
- Uncovering the roles of rare variants in common disease through whole-genome sequencing.
- Statistical analysis strategies for association studies involving rare variants.
- A tutorial on statistical methods for population association studies.
Genome-wide association studies