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Next-generation sequencing

Copy number variant detection using next-generation sequencing in EYS-associated retinitis pigmentosa

Masakazu Hiraoka, Yusaku Urakawa, Kanako Kawai, Akiko Yoshida, Junichi Hosakawa, Masaki Takazawa, Akira Inaba, Satoshi Yokota, Yasuhiko Hirami, Masayo Takahashi, Osamu Ohara, Yasuo Kurimoto, Akiko Maeda

published 24 Jun 2024

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Chromosomal analysis of single sperm cells from infertile couples with severe oligoteratozoospermia: A cross-sectional prospective study

Supitcha Sassanarakkit, Sudaporn Chamnankran, Artitaya Singwongsa, Matchuporn Sukprasert, Chonthicha Satirapod

published 14 Jun 2024

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NGS method for parallel processing of high quality, damaged or fragmented input material using target enrichment

Anna Lyander, Anna Gellerbring, Moa Hägglund, Keyvan Elhami, Valtteri Wirta

published 29 May 2024

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Performance of amplicon and capture based next-generation sequencing approaches for the epidemiological surveillance of Omicron SARS-CoV-2 and other variants of concern

Carlos Daviña-Núñez, Sonia Pérez, Jorge Julio Cabrera-Alvargonzález, Anniris Rincón-Quintero, Ana Treinta-Álvarez, Montse Godoy-Diz, Silvia Suárez-Luque, Benito Regueiro-García

published 29 Apr 2024

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Disulfide-constrained peptide scaffolds enable a robust peptide-therapeutic discovery platform

Lijuan Zhou, Fei Cai, Yanjie Li, Xinxin Gao, Yuehua Wei, Anna Fedorova, Daniel Kirchhofer, Rami N. Hannoush, Yingnan Zhang

published 28 Mar 2024

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A phage-displayed disulfide constrained peptide discovery platform yields novel human plasma protein binders

Xinxin Gao, Harini Kaluarachchi, Yingnan Zhang, Sunhee Hwang, Rami N. Hannoush

published 28 Mar 2024

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Generation of epitope-specific hCG aptamers through a novel targeted selection approach

Lauren Ferreira, Shane Patrick Flanagan, Ronen Fogel, Janice Leigh Limson

published 23 Feb 2024

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A targeted amplicon next-generation sequencing assay for tryptase genotyping to support personalized therapy in mast cell-related disorders

Olga Li, Jason A. Hackney, David F. Choy, Diana Chang, Rhea Nersesian, Tracy L. Staton, Fang Cai, Shadi Toghi Eshghi

published 09 Feb 2024

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Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma

Elena Milla, Javier Laguna, Mª. Socorro Alforja, Beatriz Pascual, María José Gamundi, Emma Borràs, Imma Hernán, María Jesús Muniesa, Marta Pazos, Susana Duch, Miguel Carballo, Meritxell Jodar, on behalf of the EMEIGG group

published 19 Jan 2024

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Performance of the cobas EZH2 mutation test on clinical samples from non-Hodgkin lymphoma patients

Johnny Y. Shyu, Peter A. Schlag, Sylwia M. Karwowska, Chitra F. Manohar, Huan M. Truong, John W. Longshore, Guili Zhang

published 14 Dec 2023

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Dataset of single nucleotide polymorphisms of immune-associated genes in patients with SARS-CoV-2 infection

Nikoletta Katsaouni, Pablo Llavona, Yascha Khodamoradi, Ann-Kathrin Otto, Stephanie Körber, Christof Geisen, Christian Seidl, Maria J. G. T. Vehreschild, Sandra Ciesek, Jörg Ackermann, Ina Koch, Marcel H. Schulz, Daniela S. Krause

published 16 Nov 2023

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Levodopa-induced dyskinesia in early-onset Parkinson’s disease (EOPD) associates with glucocerebrosidase mutation: A next-generation sequencing study in EOPD patients in Thailand

Sekh Thanprasertsuk, Prasit Phowthongkum, Thitipong Hopetrungraung, Chalalai Poorirerngpoom, Tikumphorn Sathirapatya, Patsorn Wichit, Onanong Phokaewvarangkul, Kornkiat Vongpaisarnsin, Saknan Bongsebandhu-phubhakdi, Roongroj Bhidayasiri

published 31 Oct 2023

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An invasive appetite: Combining molecular and stable isotope analyses to reveal the diet of introduced house mice (Mus musculus) on a small, subtropical island

Wieteke A. Holthuijzen, Elizabeth N. Flint, Stefan J. Green, Jonathan H. Plissner, Daniel Simberloff, Dagmar Sweeney, Coral A. Wolf, Holly P. Jones

published 19 Oct 2023

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