News on NGS technologies, RNA-seq, clinical sequencing, & sample prep in genetics, genomics, and molecular diagnostics.
The software firm will use NGS data from patient biopsies to create molecular profiles and offer individualized cancer treatment recommendations.
Though some experts prefer the comprehensive nature of whole-genome sequencing, others find whole-exome sequencing or targeted exome panels to be more useful.
Based on exome and genotyping data for almost 200 Nunavik Inuit, researchers retraced the population's ancestry, relationship, adaptations, and aneurysm risk.
The teams used different sequencing approaches — one using long reads and the other short reads — to uncover repeat expansions in people with a rare disease.
The researchers have applied for a patent on the method, dubbed MaPS-seq, which could be used to identify clinical biomarkers or turned into a kit.
