Generate complete genome assemblies using long nanopore sequencing reads. Resolve structural variants, repeats, phasing, and base modifications.
Whole Genome Sequencing (WGS) is rapidly becoming more affordable, and is a powerful tool to identify inherited disorders and mutations that drive cancer progression or for tracking disease risk.
PacBio HiFi sequencing has exceptionally accurate long reads and unbiased coverage required to provide comprehensive whole genome sequencing.
doi:10.1515/labmed-2014-0025Klein, Hanns-GeorgBauer, PeterHambuch, TinaDe Gruyter《Laboratoriumsmedizin-journal of Laboratory Medicine》Klein HG, Bauer P, Hambuch T. Whole genome sequencing (WGS), whole exome sequencing (WES) and clinical exome sequencing (CES) in patient care. Laboratoriums...
Whole Exome Sequencing (WES) uses Next Generation Sequencing methodology to provide targeted sequence information from the coding regions of the genome.
Carcinogens commonly leave imprints in the DNA. Thus, signatures of genomic events such as mutational signatures (MSs) are widely used in cancer etiological studies7,8,9. Whole-genome sequencing (WGS) is a powerful technology for investigations of alterations in intronic and intergenic regions as ...
To increase understanding of the genomic landscape of acral melanoma, a rare form of melanoma occurring on palms, soles or nail beds, whole genome sequencing of 87 tumors with matching transcriptome sequencing for 63 tumors was performed. Here we report
Chordoma is a rare bone tumor with an unknown etiology and high recurrence rate. Here we conduct whole genome sequencing of 80 skull-base chordomas and identify PBRM1, a SWI/SNF (SWItch/Sucrose Non-Fermentable) complex subunit gene, as a significantly mu
We examined the feasibility of using whole-genome sequencing (WGS) data to design tumour-specific polymerase chain reaction (PCR)-based MRD tests (WGS-MRD) in 18 children with high-risk relapsed cancer, including ALL, high-risk neuroblastoma (HR-NB) and Ewing sarcoma (EWS) (n = 6 eac...
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