Toward clinical long-read genome sequencing for rare diseases by Jesper Eisfeldt & Marlene Ek & Magnus Nordenskjamp#x000F6;ld & Anna Lindstrand ISBN 101038/S4158802502160Y instant download

Toward clinical long-read genome sequencing for rare diseases by Jesper Eisfeldt & Marlene Ek & Magnus Nordenskjamp#x000F6;ld & Anna Lindstrand ISBN 101038/S4158802502160Y instant download

Genetic diagnostics is driven by technological advances, forming a tight interface between research, clinic and industry, which enables rapid implementation of new technologies. Short-read genome and exome sequencing, the current state of the art in clinical genetics, can detect a broad spectrum of genetic variants across the genome. However, despite these advancements, more than half of individuals with rare diseases remain undiagnosed after genomic investigations. Long-read whole-genome sequencing (LR-WGS) is a promising technology that identifes previously difcult-to-detect variants while also enabling phasing and methylation analysis and has the potential of generating complete personal assemblies. To pave the way for clinical use of LR-WGS, the clinical genomic community must establish standardized protocols and quality parameters while also developing innovative tools for data analysis and interpretation. In this Perspective, we explore the key challenges and benefts in integrating LR-WGS into routine clinical diagnostics.