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Next-generation sequencing

Quantifying the diagnostic time gap in precision oncology: A retrospective analysis of potential time savings from same-day cartridge-based molecular testing versus next-generation sequencing in cytology specimens

Kevin Tran, Eveline Chen, W. Fraser Symmans, Gloria Hopkins Sura

published 16 Oct 2026

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Sub-consensus haploid variant calling in long-read sequencing technology

Xavier Zair, Andreas Wilm, Miles C. Benton, Cheng Yong Tham, Lin Yang, Paola Florez de Sessions, October Michael Sessions, Eng Hui Chew, Swapnil Mishra

published 05 Oct 2026

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The changing landscape of Fabry disease: Impact of the inclusion of the GLA-gene in broader NGS or WES based panels on the phenotypic spectrum

Laura van Dussen, Emilie V. Albers, Saskia N. van der Crabben, Ronald H. Lekanne Deprez, Astrid S. Plomp, Mirjam Langeveld

published 16 Sep 2026

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Accuracy of the molecular diagnosis of duchenne and becker muscular dystrophy: A systematic review with meta-analysis

Fabian A. Chavez-Ecos, Carlos Quispe-Vicuña, Marco Malaga, Niels Pacheco-Barrios, Andrely Huerta-Rosario, Victor Velasquez-Rimachi, Peggy Martinez Esteban, Carlos Alva-Diaz

published 21 Jul 2026

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Genetic yield of next-generation sequencing for detecting monogenic familial hypercholesterolemia in uzbek patients with coronary artery disease

Rano B. Alieva, Aleksandr B. Shek, Anastasiya V. Bahachova, Khurshid G. Fozilov, Guzal J. Abdullaeva, Alisher A. Abdullaev, Lilya E. Kan, Shavkat U. Khoshimov, Andrey R. Kim, Ulugbek I. Nizamov, Dilnora B. Yusupalieva

published 09 Jul 2026

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Potentials and challenges of next generation sequencing-guided individualized treatment for management of rifampicin-resistant tuberculosis – A qualitative study

Tu Pham Hien Trang, Antonio Barrenechea-Pulache, Katinka De Wet, Boitumelo Fanampe, Salome Charalambous, Annelies Van Rie

published 26 Jun 2026

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A comparison between bacterial cultivation and 16S rRNA next generation sequencing approaches for analysis of bacteria in urine and cerebrospinal fluid samples

Rasmi Abu-Helu, Amal Abuhilal, Yasmin Attili, Murad Ibrahim, Ghaleb Adwan, Ibrahim Abbasi

published 25 Jun 2026

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Types of genotypes in progressive familial intrahepatic cholestasis and liver transplantation: A meta-analysis of observational studies

Rania Sakka, Hela Abroug, Sabrine Ben Youssef, Mongi Mekki, Ridha M’rad

published 01 Jun 2026

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Analysis of morphological, morphokinetics, cell-free DNA, microRNAs parameters to predict aneuploidy status of embryos

Achmad Kemal Harzif, Intan Indah Permatasari, Patricia Alika Kurniawan, Thalia Amila Elsiyana, Fistyanisa Elya Charilda, Azizah Fitriayu Andyra, Heidi Dewi Mutia, Nafi’atul Ummah, Putri Nurbaeti, Amalia Shadrina, Pritta Ameilia Iffanolida, Kresna Mutia, Ririn Rahmala Febri, Retno Asti Werdhani, Dwi Anita Suryandari, Wisnu Jatmiko, Arief Boediono, Hartanto Bayuaji, R. Muharam Natadisastra, Budi Wiweko

published 02 Apr 2026

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96 sample parallel acoustic fragmentation for high throughput next generation sequencing library preparation

Marjan Mehrab-Mohseni, Kathlyne Jayne B. Bautista, Yusha Liu, Erika E. Maldonado-Rosado, Haofan Zheng, Matthew J. Niederhuber, Jonathan D. Rosen, Michell D. Carroll, Brian Velasco, James K. Tsuruta, Jinwook Kim, James S. Marron, Perry D. Haaland, Sandeep K. Kasoji, Piotr A. Mieczkowski, Austin J. Hepperla, Paul A. Dayton, Samantha G. Pattenden

published 17 Feb 2026

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Doing more with less: Genomic quasi-G-primes differentiate septic from healthy patients

Congzhou M. Sha, Michail Patsakis, Ioannis Mouratidis, Xiaoyuan Wei, Taejung Chung, Jasna Kovac, Ilias Georgakopoulos-Soares

published 06 Feb 2026

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GelInsight: Open-source software for large-sample DNA fragmentation quality control in gel electrophoresis images

Kathlyne Jayne B. Bautista, Marjan Mehrab-Mohseni, Sultan A. Kiradoh, Paul A. Dayton, Samantha G. Pattenden

published 07 Jan 2026

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Next-Gen intestinal parasite detection: Leveraging metataxonomics for improved diagnosis of intestinal protists and helminths

Katherine Bedoya-Urrego, Nicolas Rozo-Montoya, Ana L. Galván-Díaz, Gisela M. Garcia-Montoya, Juan F. Alzate

published 02 Jan 2026

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