Abstract

The rapid advancements in Next-generation Sequencing (NGS) technologies have fundamentally transformed genomic research, broadening its application across diverse scientific domains including healthcare, agriculture, and environmental sciences. This manuscript provides a comprehensive overview of the current state and future potential of NGS technologies, emphasizing their role in driving innovative solutions and addressing complex biological questions. The integration of NGS with computational genomics and artificial intelligence has notably enhanced the speed and accuracy of genetic analyses, facilitating the emergence of precision medicine and personalized healthcare solutions. Technological innovations such as single-molecule and long-read sequencing techniques have overcome previous limitations of NGS, enabling more detailed and accurate genetic profiling and discovery. Furthermore, the manuscript discusses the democratization of genomic research facilitated by reduced costs and the miniaturization of sequencing technologies, which have expanded access and application worldwide. Ethical, legal, and social implications, particularly concerning data privacy and equitable access, are also critically examined to ensure responsible usage and broad benefit from genomic advances. By highlighting both achievements and ongoing challenges, the manuscript underscores the transformative impact of genomic technologies on science and society, heralding a new era of medical and biological research.

Keywords:

Next-Generation sequencing, NGS, computational genomics, precision medicine, artificial intelligence, ethical implications, technological innovations

References

1. Akintunde O, Tucker T, Carabetta VJ. The Evolution of Next-Generation Sequencing Technologies. Methods Mol Biol. 2025;2866:3-29.

2. Angel M, Demiray M, Disel U, Passos J. The value of virtual molecular tumor boards for informed clinical decision-making. Oncologist. 2024;29(7):554-9.

3. Aleman GV, Cerpas C, Juarez JG, Moreira H, Arguello S, Coloma J, et al. Tracking the genetic diversity of SARS-CoV-2 variants in Nicaragua throughout the COVID-19 Pandemic. bioRxiv. 2024.

4. Abdulraheem MI, Xiong Y, Moshood AY, Cadenas-Pliego G, Zhang H, Hu J. Mechanisms of Plant Epigenetic Regulation in Response to Plant Stress: Recent Discoveries and Implications. Plants (Basel). 2024;13(2).

5. Bayle A, Bonastre J, Chaltiel D, Latino N, Rouleau E, Peters S, et al. ESMO study on the availability and accessibility of biomolecular technologies in oncology in Europe. Ann Oncol. 2023;34(10):934-45.

6. Clark CM, Kwan JC. Creating and leveraging bespoke large-scale knowledge graphs for comparative genomics and multi-omics drug discovery with SocialGene. bioRxiv. 2024.

7. Dweh TJ, Pattnaik S, Sahoo JP. Assessing the impact of meta-genomic tools on current cutting-edge genome engineering and technology. Int J Biochem Mol Biol. 2023;14(4):62-75.

8. Kumar M, Sharma S, Pandey S, Mammayil G, Pala Kuzhiyil A, Sreesh S, et al. The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data. Mov Disord Clin Pract. 2024.

9. Allender CJ, Wike CL, Porter WT, Ellis D, Lemmer D, Pond SJK, Engelthaler DM. Sequencing by binding rivals SMOR error-corrected sequencing by synthesis technology for accurate detection and quantification of minor (< 0.1%) subpopulation variants. BMC Genomics. 2024;25(1):789.

10. Andersson D, Kebede FT, Escobar M, Osterlund T, Stahlberg A. Principles of digital sequencing using unique molecular identifiers. Mol Aspects Med. 2024;96:101253.

11. Atzeni R, Massidda M, Pieroni E, Rallo V, Pisu M, Angius A. A Novel Affordable and Reliable Framework for Accurate Detection and Comprehensive Analysis of Somatic Mutations in Cancer. Int J Mol Sci. 2024;25(15).

12. Bhattacharya S, Saleem SM, Singh A, Singh S, Tripathi S. Empowering precision medicine: regenerative AI in breast cancer. Front Oncol. 2024;14:1465720.

13. Borah K, Das HS, Seth S, Mallick K, Rahaman Z, Mallik S. A review on advancements in feature selection and feature extraction for high-dimensional NGS data analysis. Funct Integr Genomics. 2024;24(5):139.

14. Ghorbani A, Rostami M, Guzzi PH. AI-enabled pipeline for virus detection, validation, and SNP discovery from next-generation sequencing data. Front Genet. 2024;15:1492752.

15. Ko G, Kim PG, Yoon BH, Kim J, Song W, Byeon I, et al. Closha 2.0: a bio-workflow design system for massive genome data analysis on high performance cluster infrastructure. BMC Bioinformatics. 2024;25(1):353.

16. Houston R, Desai S, Takayanagi A, Quynh Thu Tran C, Mortezaei A, Oladaskari A, et al. A Multidisciplinary Update on Treatment Modalities for Metastatic Spinal Tumors with a Surgical Emphasis: A Literature Review and Evaluation of the Role of Artificial Intelligence. Cancers (Basel). 2024;16(16).

17. Almeida da Paz M, Warger S, Taher L. Disregarding multimappers leads to biases in the functional assessment of NGS data. BMC Genomics. 2024;25(1):455.

18. Gazola AA, Lautert-Dutra W, Archangelo LF, Reis RBD, Squire JA. Precision oncology platforms: practical strategies for genomic database utilization in cancer treatment. Mol Cytogenet. 2024;17(1):28.

19. Yuan DY, Park JH, Li Z, Thomas R, Hwang DM, Fu L. A New Cloud-Native Tool for Pharmacogenetic Analysis. Genes (Basel). 2024;15(3).

20. Cifuentes C, Lombana M, Vargas H, Laguado P, Ruiz-Patino A, Rojas L, et al. Application of Comprehensive Genomic Profiling-Based Next-Generation Sequencing Assay to Improve Cancer Care in a Developing Country. Cancer Control. 2023;30:10732748231175256.

21. AlDoughaim M, AlSuhebany N, AlZahrani M, AlQahtani T, AlGhamdi S, Badreldin H, Al Alshaykh H. Cancer Biomarkers and Precision Oncology: A Review of Recent Trends and Innovations. Clin Med Insights Oncol. 2024;18:11795549241298541.

22. Inshutiyimana S, Ramadan N, Razzak RA, Al Maaz Z, Wojtara M, Uwishema O. Pharmacogenomics revolutionizing cardiovascular therapeutics: A narrative review. Health Sci Rep. 2024;7(10):e70139.

23. Bisig B, Lefort K, Carras S, de Leval L. Clinical use of circulating tumor DNA analysis in patients with lymphoma. Hum Pathol. 2024:105679.

24. Castellotti B, Ragona F, Freri E, Messina G, Magri S, Previtali R, et al. Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approach. Epilepsia Open. 2024;9(5):1922-30.

25. Albushi S, Almohalwas M, Kushk F, Alhejaili R, Samman R. Fibrous Dysplasia of Parietal Bone: A Case Report and Review of Literature. Cureus. 2024;16(11):e73023.

26. Alvarez Vazquez A, Lopez Alcolea J, Urmeneta Ulloa J, Forteza Gil A, Rivas Oyarzabal J, Cabrera Rodriguez JA, et al. Takayasu's arteritis causing coronary stenosis with myocardial ischemia, severe aortic regurgitation, and pericarditis. Radiol Case Rep. 2025;20(1):791-6.

27. Alanzi AR. Exploring Microbial Dark Matter for the Discovery of Novel Natural Products: Characteristics, Abundance Challenges and Methods. J Microbiol Biotechnol. 2024;35.

28. Belchikov N, Hsu J, Li XJ, Jarroux J, Hu W, Joglekar A, Tilgner HU. Understanding isoform expression by pairing long-read sequencing with single-cell and spatial transcriptomics. Genome Res. 2024;34(11):1735-46.

29. Agrawal A, Thomann S, Basu S, Grun D. NiCo identifies extrinsic drivers of cell state modulation by niche covariation analysis. Nat Commun. 2024;15(1):10628.

30. Bonetti Franceschi V, Volz E. Phylogenetic signatures reveal multilevel selection and fitness costs in SARS-CoV-2. Wellcome Open Res. 2024;9:85.

31. Dominguez PG, Gutierrez AV, Fass MI, Filippi CV, Vera P, Puebla A, et al. Genome-Wide Diversity in Lowland and Highland Maize Landraces From Southern South America: Population Genetics Insights to Assist Conservation. Evol Appl. 2024;17(12):e70047.

32. Feng X, Jiang N, Zheng J, Zhu Z, Chen J, Duan L, et al. Advancing knowledge of One Health in China: lessons for One Health from China's dengue control and prevention programs. Sci One Health. 2024;3:100087.

33. Atherton W, Ambrose L, Wisdom J, Lessard BD, Kurucz N, Webb CE, Beebe NW. Nuclear and mitochondrial population genetics of the Australasian arbovirus vector Culex annulirostris (Skuse) reveals strong geographic structure and cryptic species. Parasit Vectors. 2024;17(1):501.

34. Kumar A. Genome Annotation. Methods Mol Biol. 2025;2859:21-37.

35. Alwadhi V, Mishra A, Nagendra A, Bajpayee D, Joshi NC, Gupta S, Kumar H. Introduction of Heat-Stable Carbetocin through a Public-Private Partnership Model in India: A Retrospective Study to Determine Feasibility and Its Optimal Use in Public Health Settings. Int J MCH AIDS. 2024;13(Suppl 1):S81-S8.

36. Kawalia A, Motameny S, Wonczak S, Thiele H, Nieroda L, Jabbari K, et al. Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow. PLoS One. 2015;10(5):e0126321.

37. Singh S, Praveen A, Dudha N, Sharma VK, Bhadrecha P. Single-cell transcriptomics: a new frontier in plant biotechnology research. Plant Cell Rep. 2024;43(12):294.

38. Kumar KR, Cowley MJ, Davis RL. Next-Generation Sequencing and Emerging Technologies. Semin Thromb Hemost. 2024;50(7):1026-38.

39. Lee C, Vogt KA, Kumar S. Prospects for AI clinical summarization to reduce the burden of patient chart review. Front Digit Health. 2024;6:1475092.

40. Arango-Isaza E, Aninao MJ, Campbell R, Martinez FI, Shimizu KK, Barbieri C. Bridging the gap: returning genetic results to indigenous communities in Latin America. Front Genet. 2023;14:1304974.

41. Beigh M, Vagher J, Codden R, Maese LD, Cook S, Gammon A. Newborn Screening for Li-Fraumeni Syndrome: Patient Perspectives. Res Sq. 2024.

42. Cadigan RJ, Ponsaran R, Rich C, Timmons J, Brothers KB, Goldenberg AJ. Supporting Stewardship: Funding, Utilization, and Sustainability as Ethical Concerns in Networked Biobanking. AJOB Empir Bioeth. 2024:1-10.

43. Smit AK, Gokoolparsadh A, McWhirter R, Newett L, Milch V, Hermes A, et al. Ethical, legal, and social issues related to genetics and genomics in cancer: A scoping review and narrative synthesis. Genet Med. 2024;26(12):101270.

44. Beaurepaire AL, Hogendoorn K, Kleijn D, Otis GW, Potts SG, Singer TL, et al. Avenues towards reconciling wild and managed bee proponents. Trends Ecol Evol. 2024.

45. Cai Y, Zhang Y, Wu Y. Theoretical framework and differentiated policies for national park zoning management: A Baishanzu case study in China. iScience. 2024;27(12):111377.

46. Chandrani S, Drishanu D, Vaishnavi G, Gunaseelan S, Ashokkumar B, Bharathi KSU, et al. Role of macroalgal blue carbon ecosystems in climate change mitigation. Sci Total Environ. 2024;958:177751.

47. Chen YN, Cui YZ, Chen XR, Wang JY, Li BZ, Yuan YJ. Direct cloning strategies for large genomic fragments: A review. Biotechnol Adv. 2024;79:108494.

48. Dulvy NK, Pacoureau N, Matsushiba JH, Yan HF, VanderWright WJ, Rigby CL, et al. Ecological erosion and expanding extinction risk of sharks and rays. Science. 2024;386(6726):eadn1477.

49. Chaparro-Pedraza PC, Roth G, Melian CJ. Ecological diversification in sexual and asexual lineages. Sci Rep. 2024;14(1):30369.

50. Valentim HIL, Feio MJ, Almeida SFP. Assessing the effectiveness of terrestrial protected areas towards riverine ecosystems. Sci Total Environ. 2024;958:177878.

51. Al Sultan A, Rattray Z, Rattray NJW. Integrative analysis of toxicometabolomics and toxicoproteomics data: new molecular insights into thiazolidinedione-induced cardiotoxicity. Metabolomics. 2024;21(1):1.

52. Aldridge CM, Keene KL, Normeshie CA, Mychaleckyj JC, Hauck FR. Metabolomic profiles of infants classified as sudden infant death syndrome: a case-control analysis. EBioMedicine. 2024;111:105484.

53. Anwar A, Sakrikar N, Huebert R. LncRNA, RNA Therapeutics, and Emerging Technologies in Liver Pathobiology. Semin Liver Dis. 2024.

54. Al-Naimi MS, Abu-Raghif AR, Fawzi HA. Novel therapeutic effects of rifaximin in combination with methylprednisolone for LPS-induced ‎oxidative stress and inflammation in mice‎: ‎An in vivo study. Toxicol Rep. 2024;13:101808.

55. Armitage RC. Implications of Large Language Models for Clinical Practice: Ethical Analysis Through the Principlism Framework. J Eval Clin Pract. 2025;31(1):e14250.

56. Cortes J, Pacheco M, Fronteira I. Essential Factors on Effective Response at the Onset of the COVID-19 Pandemic Comment on "Experiences and Implications of the First Wave of the COVID-19 Emergency in Italy: A Social Science Perspective". Int J Health Policy Manag. 2024;13:8642.

57. Goniewicz K, Burkle FM, Khorram-Manesh A. Transforming global public health: Climate collaboration, political challenges, and systemic change. J Infect Public Health. 2024;18(1):102615.

Google Schema Validator

How to Cite

Srinivasan Ramalingam , P., Rao Barkur, R., Choudhury, M., Singla, P., Kumar , P., Prabhat, & Sah, R. (2025). Advancing genomic frontiers: emerging trends and transformative technologies in next-generation sequencing and computational analysis. Evidence Public Health, 1(1). Retrieved from http://eph.evidencejournals.com/index.php/j/article/view/13

Similar Articles

1 2 > >> 

You may also start an advanced similarity search for this article.

Most read articles by the same author(s)

Loading...