Author's response to reviews Title:Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study Authors:

Author's response to reviews Title: SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype. Authors:

Improving the cost-effectiveness equation of cascade testing for familial hypercholesterolaemia.

PURPOSE OF REVIEW Many international recommendations for the management of familial hypercholesterolaemia propose the use of cascade testing using the family mutation to unambiguously identify affected relatives. In the current economic climate DNA information is often regarded as too expensive. Here, we review the literature and suggest strategies to improve cost-effectiveness of cascade testi...

Genome Wide Association Studies, Next Generation Sequencing and Their Application in Animal Breeding and Genetics: A Review

Recently genetic studies have been revolutionized by next generation sequencing (NGS) technology, and it is expected that the use of this technology will largely eliminate defects in the methods of association studies. The NGS technology is becoming the premier tool in genetics. However, at the moment the use of this method is limited especially in the livestock due to high cost and computation...

Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts

We aimed to evaluate the prevalence of familial hypercholesterolaemia (FH) in a subject with hypercholesterolaemia from two population-based cohorts in South Korea. A total of 283 subjects with total cholesterol levels of 290 mg/dL (7.5 mmol/L) or higher were selected from the Namwon and Dong-gu Studies. We used next generation sequencing (NGS) to detect mutations in low-density lipoprotein rec...

I-37: Establishing High Resolution Genomic Profiles of Single Cells Using Microarray and Next-Generation Sequencing Technologies

The nature and pace of genome mutation is largely unknown. Standard methods to investigate DNA-mutation rely on arraying or sequencing DNA from a population of cells, hence the genetic composition of individual cells is lost and de novo mutation in cell(s) is concealed within the bulk signal. We developed methods based on (SNP-) arraying and next-generation sequencing of single-cell whole-genom...