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.

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”With the introduction of NGS the number of detected sequence variants in BRCA1 and BRCA2 is increasing fast.”

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.

"Until the recent application of next generation sequencing (NGS), no single-pass assay has been capable of routinely screening for all published CFTR mutations.”

Familial Hypercholesterolemia:
Genetic diagnosis and Cascade Testing Using NGS

This paper introduces the clinical diagnosis, indicators and symptoms, and treatment of FH, before examining the background and current status of genetic testing for FH, and new best practices enabled by Next Generation Sequencing. 


This paper is authored by Peter Benedek and Kristina Duvefelt, Karolinska University Hospital, Stockholm, Sweden.

”Using NGS, single nucleotide variants in all genes involved in FH can be detected at the same time as indications of CNV in the LDLR gene can be received.”