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

SERVICE/EQUIPMENT	USE
Whole Genome Sequencing	Technique of mapping the whole Genome including protein coding and regulatory genes Helps to identify genetic mutations such as deletions, inversions, duplications, translocations causing the disease To study the risk of causing the disease Eg:Cancers and Heart diseases
Whole Exome Sequencing	Used to identify the defects in the protein encoding genes Used to identify genetic variations in protein coding regions of the genome detects nucleotide variations and insertions and deletions
RNA sequencing	Inherited disease diagnostics Helps in studying the variability in transcription and expression levels of genes in human genome Detects intronic or coding sequence mutations in the process of splicing
Nanostring	Capture and count the nucleic acid molecules Over and under expression of genes. To study cancers
Bionano DLS	Genomic mapping to identify large structural variants in cancer and genetic disorder Detection of germline and somatic structural mutations in cancer
Pacbio WGS	It can Long read DNA Study Epigenetic sequence information Detects DNA methylation
Nucleic Acid quality control	Accurate and reliable results in the molecular biology assays preventing errors otherwise give false results with even minute contamination
Illumina High SeqX, Hiseq 4000	Whole genome sequencing Have sensitivity to detect low frequency variants
Automation and library preparation	Reduces hands on time Minimize errors Improve the efficiency of results