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Dideoxy DNA sequencing

Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population

Jalal Vallian Broojeni, Arezu Kazemi, Halimeh Rezaei, Sadeq Vallian

published 10 Aug 2023

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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease

Magdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, Soňa Fraňková, Petra Lišková, Radana Kotalová, Janka Globinovská, Markéta Šafaříková, Lucie Pfeiferová, Hana Zůnová, Lenka Mrázová, Viktor Stránecký, Alena Vrbacká, Ondřej Fabián, Eva Sticová, Daniela Skanderová, Jan Šperl, Marta Kalousová, Tomáš Zima, Milan Macek, Joanna Pawlowska, A. S. Knisely, Stanislav Kmoch, Milan Jirsa

published 20 Jul 2023

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PIK3CA mutations in breast cancer: A Tunisian series

Mariem Ben Rekaya, Farah Sassi, Essya Saied, Linda Bel Haj Kacem, Nada Mansouri, Sinda Zarrouk, Saifeddine Azouz, Soumaya Rammeh

published 17 May 2023

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Optimization of gene editing in cowpea through protoplast transformation and agroinfiltration by targeting the phytoene desaturase gene

Aya Bridgeland, Sudip Biswas, Nikolaos Tsakirpaloglou, Michael J. Thomson, Endang M. Septiningsih

published 05 Apr 2023

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Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2

Nandana D. Rao, Brian H. Shirts

published 08 Feb 2023

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Rapid, effective and low-cost purification of dideoxy-sequencing reactions by home-made magnetic beads suspension and magnetic separator

Hidenori Sassa, Kota Ikebe

published 22 Dec 2022

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Improved detection of SBDS gene mutation by a new method of next-generation sequencing analysis based on the Chinese mutation spectrum

Dong Wu, Li Zhang, Yuzhen Qiang, Kaiyu Wang

published 13 Dec 2022

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Feasibility of combining short tandem repeats (STRs) haplotyping with preimplantation genetic diagnosis (PGD) in screening for beta thalassemia

Vu Viet Ha Vuong, Thinh Huy Tran, Phuoc-Dung Nguyen, Nha Nguyen Thi, Phuong Le Thi, Dang Thi Minh Nguyet, Manh-Ha Nguyen, The-Hung Bui, Thanh Van Ta, Van-Khanh Tran

published 07 Dec 2022

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Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux

Zsuzsa I. Bartik, Ulla Sillén, Anna Djos, Anna Lindholm, Susanne Fransson

published 23 Nov 2022

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Assessment of minority frequency pretreatment HIV drug-resistant variants in pregnant women and associations with virologic non-suppression at term

Ceejay L. Boyce, Ingrid A. Beck, Sheila M. Styrchak, Samantha R. Hardy, Jackson J. Wallner, Ross S. Milne, R. Leavitt Morrison, David E. Shapiro, Esaú C. João, Mark H. Mirochnick, Lisa M. Frenkel

published 27 Sep 2022

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Generation of full-length circular RNA libraries for Oxford Nanopore long-read sequencing

Steffen Fuchs, Loélia Babin, Elissa Andraos, Chloé Bessiere, Semjon Willier, Johannes H. Schulte, Christine Gaspin, Fabienne Meggetto

published 07 Sep 2022

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Prediction of drug resistance by Sanger sequencing of Mycobacterium tuberculosis complex strains isolated from multidrug resistant tuberculosis suspect patients in Ethiopia

Eyob Abera Mesfin, Matthias Merker, Dereje Beyene, Abreham Tesfaye, Yassir Adam Shuaib, Desalegn Addise, Belay Tessema, Stefan Niemann

published 05 Aug 2022

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Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome

Tadashi Nakajima, Reika Kawabata-Iwakawa, Shuntaro Tamura, Hiroshi Hasegawa, Takashi Kobari, Hideki Itoh, Minoru Horie, Masahiko Nishiyama, Masahiko Kurabayashi, Yoshiaki Kaneko, Hideki Ishii

published 21 Jul 2022

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