Question

How would these services and equipment be of value to a nurse or physician ? Services: • Whole Genome Sequencing, • Whole Exome Sequencing, • RNA Sequencing, • NanoString • Bionano DLS • PacBio WGS (50%) Equipment and Platforms: Nucleic Acid Quality Control Illumina HiSeq X, HiSeq 4000 Automation and library preparation .

Answer 1

services

1. Whole genome sequencing is a very helpful diagnostic tool which is used by a physician to examines complete genetic code of the patient, in search of certain changes or variants in the code.

2. Whole exome sequencing which is the sequencing of the protein coding region of DNA and whole genome sequencing, are increasingly used in healthcare and research. They are helpful to identify genetic variations; both methods rely on new technologies allowing rapid sequencing of large amounts of DNA. These approaches are also known as next-generation sequencing.

3. RNA-seq has been used for a broad range of studies. For example, it was used to identify hundreds of differentially expressed genes in psoriasis in 2009, opening up new possibilities for treatment of the disease. While sequencing DNA gives a genetic profile of an organism, sequencing RNA gives rise to only the sequences that are actively expressed in the cells.

4.NanoString nCounter system can be used to detect any type of nucleic acid in solution and can also be modified with appropriate recognition probes to detect other biological molecules present in the solution. This helps to find out molecules present around our nucleic acids.

5. DNA Labeling Kit-DLS. or the Bionano Prep DNA labelling kit reagents are used to specifically sequence motifs which then are labeled directly with fluorophores in a single enzymatic reaction with high-molecular-weight .DNA csn be purified using the appropriate Bionano DNA Isolation Kit.

6. PacBio due to its high accurate make people generate complete human genome assemblies of diverse populations to understand in a better way the complexity of health and disease.

Equipment and platform.

7. Nucleic acid QC includes both quantitative and qualitative aspects.Nucleic acid concentration ,presence of chemical contaminants, etc are usually checked.Nucleic acid quantification is helpful to obtain accurate results in many assays such as PCR (polymerase chain reaction).

8.The HiSeq X Ten System is a system which is useful for whole-genome sequencing (WGS). They are a very powerful system for WGS and are widely used.

9. Automating sequencing library preparation leads to the creation of a database of the genome which is hepful in minimizing errors, reduces time, and enables higher throughput.