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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

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

Magdaléna Neřoldová, Elżbieta Ciara, [ ... ], Milan Jirsa

PIK3CA mutations in breast cancer: A Tunisian series

Mariem Ben Rekaya, Farah Sassi, [ ... ], Soumaya Rammeh

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

Aya Bridgeland, Sudip Biswas, [ ... ], Endang M. Septiningsih

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

Nandana D. Rao, Brian H. Shirts

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

Hidenori Sassa, Kota Ikebe

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

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, [ ... ], Van-Khanh Tran

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

Zsuzsa I. Bartik, Ulla Sillén, [ ... ], Susanne Fransson

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, [ ... ], Lisa M. Frenkel

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

Steffen Fuchs, Loélia Babin, [ ... ], Fabienne Meggetto

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, [ ... ], Stefan Niemann

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

Tadashi Nakajima, Reika Kawabata-Iwakawa, [ ... ], Hideki Ishii

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