Whitepapers - Next Generation Sequencing (NGS)
NGS – Full Gene Sequencing of BRCA1 and BRCA2
With the increasing use of NGS, the number of detected variants in BRCA1 and BRCA2 are increasing fast. As a consequence, the absolute numbers of Variants of Uncertain Significance (VUS) are also increasing.
This paper describes current initiatives to classify and interpret VUS in BRCA1 and BRCA2, and how laboratories can contribute to these efforts and ultimately improve the counseling of tested patients.
Next Generation Sequencing: Changing the game in CFTR analysis
Many testing strategies have been developed in laboratories across the world. Optimal strategies generally include what might be termed “level 1” and “level 2” testing. Until the recent application of next generation sequencing (NGS), no single-pass assay has been capable of routinely screening for all published CFTR mutations.
This whitepaper is authored by Stewart Payne, Consultant Clinical Scientist at UK National Health Service and Head of Molecular Genetics in the North West Thames Regional Genetics since 1995. Stewart’s laboratory was one of few in the UK offering CFTR whole gene analysis by Sanger sequencing and has recently translated whole gene analysis to next generation sequencing.
Genetic diagnosis and Cascade Testing Using NGS
This paper is authored by Peter Benedek and Kristina Duvefelt, Karolinska University Hospital, Stockholm, Sweden.