2 documents found, page 1 of 1
Metagenomic sequencing with spiked primer enrichment for viral diagnostics and ...
Deng, X.; Achari, A.; Federman, S.; Yu, G.; Somasekar, S.; Bártolo, I.; Yagi, S.; Mbala-Kingebeni, P.; Kapetshi, J.; Ahuka-Mundeke, S.Metagenomic next-generation sequencing (mNGS), the shotgun sequencing of RNA and DNA from clinical samples, has proved useful for broad-spectrum pathogen detection and the genomic surveillance of viral outbreaks. An additional target enrichment step is generally needed for high-sensitivity pathogen identification in low-titre infections, yet available methods using PCR or capture probes can be limited by high c...
Genomic landscape of balanced cytogenetic abnormalities in subjects with multip...
Redin, Claire; Brand, Harrison; Collins, Ryan; Hanscom, Carrie; Vamsee, Pillalamarri; Kammin, Tammy; Mitchell, E.; Hodge, J.C.; Schilit, S.Balanced chromosomal abnormalities (BCAs) represent a unique class of genomic variation that involves large rearrangement of the chromosomes. To date their detection has been limited to cytogenetic resolution as most first-tier genetic screening methods are blind to their presence. We defined the genomic landscape of de novo BCAs associated with human congenial anomalies in 235 subjects using whole-genome seque...