Publications

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

• A genome wide association study of 14,000 cases of seven common diseases and 3,000 shared controls, Wellcome Trust
• Replicating genotype-phenotype associations, NCI-NHGRI Working Group
• A second generation human haplotype map of over 3.1 million SNPs.
• Closing the net on common disease genes