While the first reference human genome is more than 20 years old (Skaletsky et al, 2003), the reference human genome GRCh38 Y chromosome was missing almost half of its 57.2 Mb. But the August 23 online publication of...read more
Category - Next generation sequencing
Changing the Clinical Genetic Testing Paradigm to Increase Sensitivity and Specificity
The goal of clinical genomics is to provide a diagnosis for difficult-to-solve inherited and somatic disorders to enhance a personalized therapeutic approach. Unfortunately, despite costly and extensive testing only...read more
New, Precise, and Efficient DNA Sequencing Method May Lead to Easier Testing and Earlier Cancer Detection
The technique, created by Penn Medicine researchers, requires smaller DNA samples for testing and opens up potential new opportunities for next-generation diagnostics. June 15, 2023 PHILADELPHIA – Researchers from...read more
Broad Institute Launches $1K Sample-to-Report Clinical Whole-Genome Sequencing Service
As clinical whole-genome sequencing (WGS) is becoming more of a routine diagnostic test for certain patients with genetic disorders, the Broad Institute has launched a new end-to-end WGS and variant interpretation...read more
