1. Intronic hexanucleotide repeat expansion in TYMS in monozygotic twins with congenital progressive universal melanosis
Sunisa Kanchanasutthiyakorn, Sakchai Chaiyamahapurk, Siraprapa Tongkobpetch, Kanokwan Santawong, Chalurmpon Srichomthong, Tippayakarn Klomchan, Chaiyaporn Virochsangaroon, Monnat Pongpanich, Prateep Warnnissorn, Sutatip Pongcharoen, Vorasuk Shotelersuk
Biomedical Reports  vol: 23  issue: 2  first page: 1  year: 2025  
doi: 10.3892/br.2025.2016

2. Mycobacterium tuberculosis complex sample processing by mechanical lysis, an essential step for reliable whole genome sequencing
Noud Hermans, Rina de Zwaan, Arnout Mulder, Joyce van den Dool, Dick van Soolingen, Kristin Kremer, Richard Anthony
Journal of Microbiological Methods  vol: 227  first page: 107053  year: 2024  
doi: 10.1016/j.mimet.2024.107053

3. Testing the limits of short-reads metagenomic classifications programs in wastewater treating microbial communities
Leandro Di Gloria, Lorenzo Casbarra, Tommaso Lotti, Matteo Ramazzotti
Scientific Reports  vol: 15  issue: 1  year: 2025  
doi: 10.1038/s41598-025-07734-8

4. Potential clinical applications of advanced genomic analysis in cerebral palsy
Sara A. Lewis, Andrew Ruttenberg, Tuğçe Iyiyol, Nahyun Kong, Sheng Chih Jin, Michael C. Kruer
eBioMedicine  vol: 106  first page: 105229  year: 2024  
doi: 10.1016/j.ebiom.2024.105229

5. Advances in long-read single-cell transcriptomics
Pallawi Kumari, Manmeet Kaur, Kiran Dindhoria, Bruce Ashford, Shanika L. Amarasinghe, Amarinder Singh Thind
Human Genetics  vol: 143  issue: 9-10  first page: 1005  year: 2024  
doi: 10.1007/s00439-024-02678-x

6. A review of durian plant-bat pollinator interactions
Aminuddin Baqi, Voon-Ching Lim, Hafiz Yazid, Faisal Ali Anwarali Khan, Chong Ju Lian, Bryan Raveen Nelson, Jaya Seelan Sathiya Seelan, Suganthi Appalasamy, Seri Intan Mokhtar, Jayaraj Vijaya Kumaran
Journal of Plant Interactions  vol: 17  issue: 1  first page: 105  year: 2022  
doi: 10.1080/17429145.2021.2015466

7. Retos de la genética en el diagnóstico de la muerte súbita de origen cardiaco. Interés para la medicina legal y forense
Alejandro Blanco-Verea, Ángel Carracedo, María Brion
Medicina Clínica  vol: 164  issue: 3  first page: e1  year: 2025  
doi: 10.1016/j.medcli.2024.10.002

8. Diagnosis of invasive fungal infections: challenges and recent developments
Wenjie Fang, Junqi Wu, Mingrong Cheng, Xinlin Zhu, Mingwei Du, Chang Chen, Wanqing Liao, Kangkang Zhi, Weihua Pan
Journal of Biomedical Science  vol: 30  issue: 1  year: 2023  
doi: 10.1186/s12929-023-00926-2

9. A comprehensive review on Gossypium hirsutum resistance against cotton leaf curl virus
Sahar Nadeem, Syed Riaz Ahmed, Tahira Luqman, Daniel K. Y. Tan, Zahra Maryum, Khalid Pervaiz Akhtar, Sana Muhy Ud Din Khan, Muhammad Sayyam Tariq, Nazar Muhammad, Muhammad Kashif Riaz Khan, Yongming Liu
Frontiers in Genetics  vol: 15  year: 2024  
doi: 10.3389/fgene.2024.1306469

10. Laboratory tools for the direct detection of bacterial respiratory infections and antimicrobial resistance: a scoping review
Olufunto O. Adewusi, Cheryl L. Waldner, Patrick C. Hanington, Janet E. Hill, Claire N. Freeman, Simon J. G. Otto
Journal of Veterinary Diagnostic Investigation  vol: 36  issue: 3  first page: 400  year: 2024  
doi: 10.1177/10406387241235968

11. Can long-read sequencing tackle the barriers, which the next-generation could not? A review
Nikolett Szakállas, Barbara K. Barták, Gábor Valcz, Zsófia B. Nagy, István Takács, Béla Molnár
Pathology and Oncology Research  vol: 30  year: 2024  
doi: 10.3389/pore.2024.1611676

12. Advances in sequencing technologies for amyotrophic lateral sclerosis research
Evan Udine, Angita Jain, Marka van Blitterswijk
Molecular Neurodegeneration  vol: 18  issue: 1  year: 2023  
doi: 10.1186/s13024-022-00593-1

13. Dynamic lipidome alterations associated with human health, disease and ageing
Daniel Hornburg, Si Wu, Mahdi Moqri, Xin Zhou, Kevin Contrepois, Nasim Bararpour, Gavin M. Traber, Baolong Su, Ahmed A. Metwally, Monica Avina, Wenyu Zhou, Jessalyn M. Ubellacker, Tejaswini Mishra, Sophia Miryam Schüssler-Fiorenza Rose, Paula B. Kavathas, Kevin J. Williams, Michael P. Snyder
Nature Metabolism  vol: 5  issue: 9  first page: 1578  year: 2023  
doi: 10.1038/s42255-023-00880-1

14. Elucidating Quadruplication Event of PHO1 Gene: A Key Regulator of Plant Phosphate Translocation in Brassica rapa
Dahlia Shahbuddin, Rosazlina Rusly, Ahmad Naqib Shuid, Ahmad Bukhary Ahmad Khair
Horticulturae  vol: 9  issue: 7  first page: 845  year: 2023  
doi: 10.3390/horticulturae9070845

15. Recommendations for detection, validation, and evaluation of RNA editing events in cardiovascular and neurological/neurodegenerative diseases
Korina Karagianni, Alessia Bibi, Alisia Madé, Shubhra Acharya, Mikko Parkkonen, Teodora Barbalata, Prashant K. Srivastava, David de Gonzalo-Calvo, Constanza Emanueli, Fabio Martelli, Yvan Devaux, Dimitra Dafou, A. Yaël Nossent
Molecular Therapy Nucleic Acids  vol: 35  issue: 1  first page: 102085  year: 2024  
doi: 10.1016/j.omtn.2023.102085

16. Long-Read Sequencing for the Metagenomic Analysis of Microbiomes
Tristan Free
BioTechniques  vol: 74  issue: 4  first page: 153  year: 2023  
doi: 10.2144/btn-2023-0028

17. Parthenogenomics: Insights on mutation rates and nucleotide diversity in parthenogenetic Panagrolaimus nematodes
Laura I. Villegas, Luca Ferretti, Thomas Wiehe, Ann‐Marie Waldvogel, Philipp H. Schiffer
Ecology and Evolution  vol: 14  issue: 1  year: 2024  
doi: 10.1002/ece3.10831

18. An Oxford Nanopore Technology-Based Hepatitis B Virus Sequencing Protocol Suitable for Genomic Surveillance Within Clinical Diagnostic Settings
Derek Tshiabuila, Wonderful Choga, James E. San, Tongai Maponga, Gert Van Zyl, Jennifer Giandhari, Sureshnee Pillay, Wolfgang Preiser, Yeshnee Naidoo, Cheryl Baxter, Darren P. Martin, Tulio de Oliveira
International Journal of Molecular Sciences  vol: 25  issue: 21  first page: 11702  year: 2024  
doi: 10.3390/ijms252111702

19. A multi-modal molecular characterization of the Philadelphia translocation featuring long read sequencing
Janet Hei Yin Law, Chun Hang Au, Amy Wing-Sze Leung, Henry C.M. Leung, Elaine Y.L. Wong, Beca B.K. Ip, Dona N.Y. Ho, Shing Yan Ma, Helen M.H. Chan, Edmond K.W. Chiu, James C.S. Chim, Raymond H.S. Liang, Thomas S.K. Wan, Edmond S.K. Ma
Gene  vol: 950  first page: 149370  year: 2025  
doi: 10.1016/j.gene.2025.149370

20. Beyond Low Prevalence: Exploring Antibiotic Resistance and Virulence Profiles in Sri Lankan Helicobacter pylori with Comparative Genomics
Kartika Afrida Fauzia, Jeewantha Rathnayake, Dalla Doohan, Meegahalande Durage Lamawansa, Ricky Indra Alfaray, Saruuljavkhlan Batsaikhan, Bui Hoang Phuc, Langgeng Agung Waskito, Vo Phuoc Tuan, Evariste Tshibangu Kabamba, Shamshul Ansari, Takashi Matsumoto, Junko Akada, Takeshi Matsuhisa, Yoshio Yamaoka
Microorganisms  vol: 13  issue: 2  first page: 420  year: 2025  
doi: 10.3390/microorganisms13020420

21. Advances in Molecular and Genetic Technologies and the Problems Related to Their Application in Personalized Medicine
Valeriya Nakhod, Anton Krivenko, Tatiana Butkova, Kristina Malsagova, Anna Kaysheva
Journal of Personalized Medicine  vol: 14  issue: 6  first page: 555  year: 2024  
doi: 10.3390/jpm14060555

22. A long-read sequencing approach to high-resolution profiling of bacterioplankton diversity in a shallow freshwater lake
Stephanie O. Castro Márquez, Viktor R. Tóth, Sofiia Kolchanova, Walter W. Wolfsberger, Taras K. Oleksyk
Scientific Reports  vol: 15  issue: 1  year: 2025  
doi: 10.1038/s41598-025-96558-7

23. Importance of Thai macaque bioresources for biological research and human health
Kornsorn Srikulnath, Syed Farhan Ahmad, Thitipong Panthum, Suchinda Malaivijitnond
Journal of Medical Primatology  vol: 51  issue: 1  first page: 62  year: 2022  
doi: 10.1111/jmp.12555

24. Next-Generation Sequencing and Image-Guided Tissue Sampling: A Primer for Interventional Radiologists
Jason Yeung, Nicos Fotiadis, Athanasios Diamantopoulos, Andrew Tutt, Ioannis Roxanis, Steve Bandula
Journal of Vascular and Interventional Radiology  vol: 34  issue: 8  first page: 1291  year: 2023  
doi: 10.1016/j.jvir.2023.03.012

25. Tick genomics through a Nanopore: a low-cost approach for tick genomics
Christina Meiring, Monique Eygelaar, Josephus Fourie, Michel Labuschagne
BMC Genomics  vol: 26  issue: 1  year: 2025  
doi: 10.1186/s12864-025-11733-4

26. Linear time complexity de novo long read genome assembly with GoldRush
Johnathan Wong, Lauren Coombe, Vladimir Nikolić, Emily Zhang, Ka Ming Nip, Puneet Sidhu, René L. Warren, Inanç Birol
Nature Communications  vol: 14  issue: 1  year: 2023  
doi: 10.1038/s41467-023-38716-x

27. Sequencing Platforms
John M. O’Shea, Hunter Best, Makenzie L. Fulmer
Advances in Molecular Pathology  vol: 7  issue: 1  first page: 175  year: 2024  
doi: 10.1016/j.yamp.2024.06.007

28. Implementing Whole Genome Sequencing (WGS) in Clinical Practice: Advantages, Challenges, and Future Perspectives
Petar Brlek, Luka Bulić, Matea Bračić, Petar Projić, Vedrana Škaro, Nidhi Shah, Parth Shah, Dragan Primorac
Cells  vol: 13  issue: 6  first page: 504  year: 2024  
doi: 10.3390/cells13060504

29. Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities—A Narrative Review
Mary Hsin-Ju Ko, Hui-Ju Chen
Children  vol: 10  issue: 3  first page: 501  year: 2023  
doi: 10.3390/children10030501

30. Addressing the complex phylogenetic relationship of the Gempylidae fishes using mitogenome data
Siphesihle Mthethwa, Aletta E. Bester‐van der Merwe, Rouvay Roodt‐Wilding
Ecology and Evolution  vol: 13  issue: 6  year: 2023  
doi: 10.1002/ece3.10217

31. Adapting the GACT-X Aligner to Accelerate Minimap2 in an FPGA Cloud Instance
Carolina Teng, Renan Weege Achjian, Jiang Chau Wang, Fernando Josepetti Fonseca
Applied Sciences  vol: 13  issue: 7  first page: 4385  year: 2023  
doi: 10.3390/app13074385

32. vcfdist: accurately benchmarking phased small variant calls in human genomes
Tim Dunn, Satish Narayanasamy
Nature Communications  vol: 14  issue: 1  year: 2023  
doi: 10.1038/s41467-023-43876-x

33. Comparison of de novo assembly using long-read shotgun metagenomic sequencing of viruses in fecal and serum samples from marine mammals
Katie Vigil, Tiong Gim Aw
Frontiers in Microbiology  vol: 14  year: 2023  
doi: 10.3389/fmicb.2023.1248323

34. Alternative transcription increases isoform complexity in Long Non-Coding RNAs and alters their functions in cancer
Max Bone, Gareth J. Inman
Non-coding RNA Research  vol: 14  first page: 38  year: 2025  
doi: 10.1016/j.ncrna.2025.04.008

35. Genome analysis of Zoysia japonica ‘Yaji’ cultivar using PacBio long-read sequencing
Dae-Hwa Yang, Ok-Cheol Jeong, Hyeon-Jin Sun, Hong-Gyu Kang, Hyo-Yeon Lee
Plant Biotechnology Reports  vol: 17  issue: 2  first page: 275  year: 2023  
doi: 10.1007/s11816-023-00829-6

36. Challenges of genetics in the diagnosis of sudden cardiac death. Interest for forensic and legal medicine
Alejandro Blanco-Verea, Ángel Carracedo, María Brion
Medicina Clínica (English Edition)  vol: 164  issue: 3  first page: e1  year: 2025  
doi: 10.1016/j.medcle.2024.10.006

37. Characterization of full-length LINE-1 insertions in 154 genomes
Jessica S. Wong, Tanaya Jadhav, Eleanor Young, Yilin Wang, Ming Xiao
Genomics  vol: 113  issue: 6  first page: 3804  year: 2021  
doi: 10.1016/j.ygeno.2021.09.011

38. Gut microbiome and metabolome library construction based on age group using short-read and long-read sequencing techniques in Korean traditional canine species Sapsaree
Seon-Hui Son, Min-Geun Kang, Anna Kang, Yonggu Kang, Kimoon Kim, Min-Jin Kwak, Minho Song, Younghoon Kim
Frontiers in Microbiology  vol: 15  year: 2024  
doi: 10.3389/fmicb.2024.1486566

39. A glance on Immunogenetics Laboratory: from the origins to the future
Donato Madalese, Rosaria Casalino, Laura Auriemma, Rosa Colucci, Antonio Di Maio, Francesco Paolo Tambaro, Roberta Penta de Vera d’Aragona
Egyptian Journal of Medical Human Genetics  vol: 24  issue: 1  year: 2023  
doi: 10.1186/s43042-023-00447-5

40. Oxford Nanopore Technology and its Application in Liquid Biopsies
Mariya Levkova, Trifon Chervenkov, Lyudmila Angelova, Deyan Dzenkov
Current Genomics  vol: 24  issue: 6  first page: 337  year: 2023  
doi: 10.2174/0113892029286632231127055733