Whole genome sequencing (WGS) is the comprehensive read and analysis of an entire genome, including non-coding regions of the genome.
The process of the present invention is used for genetic disease diagnosis including the steps of genome sequencing, creating a superset of sensitive variant calls by using at least two independent analysis methods, comparing a database of genetic diseases with disease phenotype information to produce...
Figure 1. The Normalase workflowenables streamlined library balancing and pooling process without the need to quantify samples and maximizes sequencing efficiency.xGen DNA Library Prep EZ libraries were generated with stubby adapters from 100 ng of Coriell NA12878 gDNA. Twelve library subsets were eithe...
J.C.V. conceived the study. A.T. led the analyses. T.L. and A.T. designed the study. T.L. performed genome analyses. M.H. performed structural analysis. H.-C.Y. performed Mendelian and pathway analyses. W.H.B. led the sequencing process. C.M., J.Z., K.S., M.M. and ...
PacBio HiFi sequencing has exceptionally accurate long reads and unbiased coverage required to provide comprehensive whole genome sequencing.
We offer a range of Invitrogen genomic DNA extraction kits for sensitive, scalable purification from an expansive set of starting materials to help maximize process efficiency and downstream performance. This includes a broa...
In addition to high-quality data, Illumina offers integrated whole-transcriptome sequencing workflows that simplify the entire process, from library preparation to data analysis and biological interpretation. Library PreparationSequencingData Analysis & Storage ...
Genome assembly De novo assemblyis the process to align overlapping reads to form longer contigs (larger contiguous sequences) and order the contigs into scaffolds (a framework of the sequenced genome). If there is a reference genome from a related species, the common method is to first generat...
Rosacea is a chronic inflammatory skin disorder with high incidence rate. Although genetic predisposition to rosacea is suggested by existing evidence, the genetic basis remains largely unknown. Here we present the integrated results of whole genome sequ
Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic diagnosis of rare and unknown diseases and for identification of actionable cancer drivers. Compared to other molecular genetic methods, WGS captures most genomic variat