How Technology is Improving the Field of Genomic

New technologies are being used in the field of genomics to provide accurate diagnosis and better therapy. 

FREMONT, CA: There were significant advancements in areas like elevated sequencing, big data processing and storage, genetic engineering, and gene therapy in the last few years. It is now clear that genomic technologies will make a real impact in the clinics and areas where transformative applications have already been made that include oncology and genetic disease diagnostics.

The production of tools for tumor DNA sequencing and analysis has been a particularly active zone. It is now possible to perform high-throughput sequencing of tumor samples to classify mutations in a patient's tumor, enabling a more accurate diagnosis and treatment selection. The absence of matched normal tissue is a common problem in identifying somatic mutations (genetic modifications are not present in germline cells) in tumors.

There is a new software known as ISOWN to fight against this. It uses supervised machine learning and external databases to identify with more precision somatic mutations in next-generation sequencing data of tumor samples due to the lack of normal samples. ISOWN could help cases where normal tissue was not extracted or where patient consent did not permit it to be collected and in retrospective studies.

Understanding Mendelian and complex disorders is also evolving, and the latest developments in neuropsychiatric genomics have been significant.

[vendor_logo_first]Identifying the genes involved in these complex diseases should help researchers better understand the condition and improve diagnostics and treatment.

Exciting advancements in genomic technology are also being used in the development of better therapies. Functional genomic screening with short hairpin RNA (shRNA) is a valuable method for identifying cancer cells' vulnerabilities that can be targeted for treatment. Due to off-target effects, this area has been plagued by poor reproducibility.

Proteogenomics is another powerful method for identifying druggable targets in cancer, as it can detect germline and somatic mutations within critical cancer genes that genomics and transcriptomics tend to overlook.

The field of RNA therapeutics is gaining popularity as several new therapies enter clinical trials and the first therapies receiving FDA approval. The critical problems of stability and immunogenicity have been resolved, and distribution and security are now the priority.

Data storage can be complex due to the large quantities of data produced by sequencing technologies' widespread use. Cloud computing provides a solution for data storage with potential collaboration, but the regulatory barriers must be resolved.

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