What is low coverage sequencing?
Compared with deep sequencing strategies, low-coverage whole-genome sequencing produces a mere fraction of the data per sample and relies on computational methods to fill in the missing information. Then high-throughput whole-genome sequencing.
What is the difference between next-generation sequencing and whole-genome sequencing?
The key difference between NGS and WGS is that next-generation sequencing (NGS) is a massively parallel second-generation sequencing technology that is high throughput, low cost, and speedy, while whole-genome sequencing (WGS) is a comprehensive method of analyzing the entire genomic DNA of a cell at a single time by …
Why is coverage important in sequencing?
It describes how often, in average, a reference sequence is covered by bases from the reads. This is an important information because multiple observations per base are needed to obtain to a reliable call (1). Therefore coverage is also used as a unit for the statistical power of sequencing data.
What does 30x coverage mean?
The number before the ‘x’ is the coverage (the average number of times your genome will be sequenced). For example, when you get 30x WGS, the ’30x’ means that your entire genome will be sequenced an average of 30 times.
What is low coverage whole genome sequencing?
Low-Pass Whole Genome Sequencing (LP-WGS or low-coverage whole-genome sequencing) is an inexpensive high-throughput technology for detecting genome-wide genetic variation in a multitude of species.
How is next-generation sequencing most often used?
NGS can sequence hundreds and thousands of genes or whole genome in a short period of time. The sequence variants/mutations detected by NGS have been widely used for disease diagnosis, prognosis, therapeutic decision, and follow up of patients.
How does high throughput sequencing work?
While sequencing information has traditionally been elucidated using a low throughput technique called Sanger sequencing, high throughput sequencing (HTS) technologies are capable of sequencing multiple DNA molecules in parallel, enabling hundreds of millions of DNA molecules to be sequenced at a time.
What is high coverage sequencing?
The high coverage stage serves as a reference panel for the imputation of the low coverage stage in order to identify more rare and low-frequency variants. Many discussions can be found in the literature exploring the cost-effective design of sequencing based genetic association studies.
What is exon coverage?
An exon is covered when all bases have at least 1 read mapped to it. Or in other words, uncovered exons are those were there are 1 or more bases that have no reads mapped to them.
Which statements identify differences between proteomics and genomics?
Genomics and proteomics are closely-related fields. The main difference between genomics and proteomics is that genomics is the study of the entire set of genes in the genome of a cell whereas proteomics is the study of the entire set of proteins produced by the cell.