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Genome informatics

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Genome informatics is a subfield of bioinformatics that uses computational tools to process and analyze genomic information through databases, algorithms, and bioinformatics applications.[1] Genome informatics includes methods for analyzing DNA sequence data, predicting protein sequences and structures, and studying genomic datasets using genomic tools and technologies.[1] These methods help in the analysis of complex traits, precision medicine, and research in evolutionary biology.[2]

Genomic Tools and Technologies

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Genomic Tools and Technologies[3] Description[3] Application[3]
DNA Sequencing (NGS) Process of determining the order of nucleotides in a DNA sequence.
  • Whole genome sequencing
  • Exome sequencing
  • Targeted gene panels
Single Nucleotide Polymorphism (SNP) Analysis Through the use of SNP arrays and genotyping platforms, single-base genetic variations can be detected.
  • Cancer Genomics
  • Linkage Analysis
Polymerase Chain Reaction (PCR) Laboratory technique used to copy a specific DNA segment.
  • SNP genotyping
  • Insertion-deletion variants
  • Detection of rare sequences
Linkage Analysis Method for mapping genes to chromosome locations based on heritable traits.
Genome-Wide Association Studies (GWAS) Observational study of genetic variants across large populations to identify associations between SNP's and specific traits or diseases.
  • Identify and characterize disease susceptible variants
Fluorescence In Situ Hybridization (FISH) Cytogenetic technique used to label chromosomal locations using fluorescent DNA probes.
Comparative Genomic Hybridization (CGH) Cytogenetic technique used to determine DNA copy number variations across the entire genome of a patient.
  • Cancer genomics

Precision Medicine

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By using sequencing and computational analysis, genetic sequences can be examined to locate mutations that influence disease.[3][2] Genetic variants are located and analyzed to help researchers figure out whether the variant is associated with a disease.[3] By using this process, researchers can differentiate between common and harmful variants.[3] This information is then used in precision medicine to determine disease risk and design treatments specifically for each person.[3] Genome informatics is commonly used in oncology to identify tumor-specific mutations and develop targeted treatments.[3] Advances in sequencing technology result in advances in medicine, which is why research in genome informatics is essential.

References

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  1. ^ a b Muse, Spencer (2005), "Genomics and Bioinformatics", Introduction to Biomedical Engineering, Elsevier, pp. 799–831, doi:10.1016/B978-0-12-238662-6.50015-X, ISBN 978-0-12-238662-6, PMC 7271170
  2. ^ a b Peterson, Thomas A.; Doughty, Emily; Kann, Maricel G. (2013-11-01). "Towards precision medicine: advances in computational approaches for the analysis of human variants". Journal of Molecular Biology. 425 (21): 4047–4063. doi:10.1016/j.jmb.2013.08.008. ISSN 1089-8638. PMC 3807015. PMID 23962656.
  3. ^ a b c d e f g h Pattan, Vishwanath; Kashyap, Rahul; Bansal, Vikas; Candula, Narsimha; Koritala, Thoyaja; Surani, Salim (2021-09-20). "Genomics in medicine: A new era in medicine". World Journal of Methodology. 11 (5): 231–242. doi:10.5662/wjm.v11.i5.231. ISSN 2222-0682. PMC 8472545. PMID 34631481.
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