Clinical sequencing: is WGS the better WES?

Clinical diagnostic whole genome sequencing in a paediatric population: experience from our WGS genetics clinic

Background We are in an unprecedented era where the genome of an individual can be sequenced in a day for low cost in a single sequencing run. The availability this information is changing and challenging the practice of medicine. At The Medical College of Wisconsin (MCW) we have been running a whole genome sequencing (WGS) based genetics clinic for over a year. WGS together with the processes ...

Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants

Next generation sequencing (NGS) technologies have revolutionized our approach to genomic research. The use of whole genome sequencing (WGS), whole exome sequencing (WES), transcriptome profiling, and targeted DNA sequencing has exponentially improved our understanding of the human genome and the genetic complexities underlying malignancy. Yet, WGS and WES clinical applications remain limited d...

Whole genome sequencing (WGS) meets biogeography and shows that genomic selection in forest trees is feasible.

Recently developed approaches to high throughout sequencing (HTS) and single nucleotide polymorphism (SNP) detection offer unprecedented power to uncover functionally important genetic variation at the level of whole genomes and entire metapopulations in wild species. In a landmark paper published in this issue ofNew Phytologist, Slavov et al. (pp. 713–725) put these novel approaches to work in...

Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors

BACKGROUND The transition of whole-exome and whole-genome sequencing (WES/WGS) from the research setting to routine clinical practice remains challenging. OBJECTIVES With almost no previous research specifically assessing interface designs and functionalities of WES and WGS software tools, the authors set out to ascertain perspectives from healthcare professionals in distinct domains on optim...

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