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DNA sequencing

A non-allelic homologous recombination-induced inversion in intron 22 of the F8 gene is causative for haemophilia A in a Weimaraner male dog

Sabrina Pach, Joel Fonseca Nogueira, Bertram Brenig

published 26 Oct 2026

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Lens dislocation, OCTA, and archived FBN1 reports: An exploratory study

Muhammer Özgür Çevik, Metehan Simsek, Sadik Gorkem Cevik, Irfan Perente

published 23 Oct 2026

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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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Diversity at the HYP1 locus in potato cyst nematodes does not result from developmentally-programmed somatic mutations

Vincent C. T. Hanlon, Unnati Sonawala, Cian A. A. Raza, Luisa Kalkert, George Harpum, Lukas A. Burkhardt, Johannes Helder, Sebastian Eves-van den Akker

published 15 Sep 2026

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OligoSeq: Rapid nanopore-sequencing of single-stranded oligonucleotides

Robert Ramirez-Garcia, Akashaditya Das, Patrycja Sokolowska, Thomas Heinis

published 03 Sep 2026

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Study protocol: Effect of inulin supplementation on gut microbiota in patients with oral lichen planus — A double-blind, randomised, placebo-controlled parallel-group trial

Koki Nambu, Naoki Kaneko, Shiho Yokomizo, Hu Chen, Lijing Yan, Wang Shiyao, Ryusei Shizuma, Eiji Iwata, Yukiko Ohyama, Shohei Akagawa, Soichiro Ibaragi, Shintaro Kawano, Masafumi Moriyama

published 13 Aug 2026

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CLR-Seq: A pipeline to identify bacterial microbiota species with immune-relevant glycan moieties through human C-type lectin receptor interaction

Jasper Mol, Rob van Dalen, Yvonne Pannekoek, Malgorzata E. Mnich, Marcel R. de Zoete, Mark Davids, Hilde Herrema, Nina M. van Sorge

published 13 Aug 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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