PacBio HiFi sequencing has exceptionally accurate long reads and unbiased coverage required to provide comprehensive whole genome sequencing.
Whole-genome sequencing (WGS) is widely employed to diagnose rare [31,32,33,34,35] and undiagnosed diseases [36] and identify actionable cancer drivers and signatures. The different clinical applications and the type of analyses that are implicated in the diagnostics are shown in Fig.2. There ...
sectioned by a cryostat, and stained with hematoxylin and eosin. We performed macrodissection to enrich the tumor fraction relative to the dominant stromal component and other normal cells. DNA was extracted using a general protocol for genome sequencing. Preparation of ...
8,9. Whole-genome sequencing (WGS) is a powerful technology for investigations of alterations in intronic and intergenic regions as well as in the exome, and provides an opportunity to delineate the complete MSs imprinted
not differ between PD batches 1 and 2 (Wilcoxon-rank sum test).fInterval between blood sampling and time of onset of PD.gAge distribution of healthy individuals at the time of blood sampling. CNV copy number variation; HC healthy control; PD Parkinson’s disease; WGS whole-genome sequencing....
Whole-genome sequencing provides unique information not available from prior studies with whole-exome sequencing, including data on translocations, complex rearrangements and genome-wide mutational patterns. However, relatively higher sequencing costs have limited the number of whole-genome studies (n=4, ...
Genetic factors modifying the blood metabolome have been investigated through genome-wide association studies (GWAS) of common genetic variants and through exome sequencing. We conducted a whole-genome sequencing study of common, low-frequency and rare variants to associate genetic variations with blood...
(R. tarandus tarandus) from Sodankylä, Finland. In the present study, we improved the genome assembly of this same individual. The DNA for library preparations and sequencing was extracted using a standard phenol–chloroform extraction from liver and muscle samples, which were collected at ...
In contrast to primary colorectal cancer (CRC) little is known about the genomic landscape of metastasized CRC. Here we present whole genome sequencing data of metastases of 429 CRC patients participating in the pan-cancer CPCT-02 study (NCT01855477). Un
The CRISPR (clustered regularly interspaced short palindromic repeats)-associated protein 9 (Cas9) system is a powerful tool for targeted genome editing, with applications that include plant biotechnology and functional genomics research. However, the sp