Comparative evaluation of four exome enrichment solutions in 2024: Agilent, Roche, Vazyme and Nanodigmbio by Vera Belova, Iuliia Vasiliadis, Zhanna Repinskaia, Alina Samitova, Anna Shmitko, Natalya Ponikarovskaya, Oleg Suchalko, Valery Cheranev, Shatalov Peter, Shegai Peter, Kaprin Andrey, Denis Rebrikov, Dmitriy Korostin

Subjects: “…Whole exome sequencing…”
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Bioinformatics Interpretation of Exome Sequencing: Blood Cancer by Jiwoong Kim, Yun-Gyeong Lee, Namshin Kim

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Protein C deficiency with recurrent systemic thrombosis associated with compound heterozygous PROC missense variants by Mikio Shiba, Shuichiro Higo, Yu Morishita, Yasuhiro Ichibori, Yoshihiro Kin, Yasushi Sakata, Yoshiharu Higuchi

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SNP discovery by exome capture and resequencing in a pea genetic resource collection by Aubert, Grégoire, Kreplak, Jonathan, Leveugle, Magalie, Duborjal, Hervé, Klein, Anthony, Boucherot, Karen, Vieille, Emilie, Chabert-Martinello, Marianne, Cruaud, Corinne, Bourion, Virginie, Lejeune-Hénaut, Isabelle, Pilet-Nayel, Marie-Laure, Bouchenak-Khelladi, Yanis, Francillonne, Nicolas, Tayeh, Nadim, Pichon, Jean-Philippe, Rivière, Nathalie, Burstin, Judith

Subjects: “…Pea; Single Nucleotide Polymorphism; Exome capture; diversity…”
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Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population by Mohamed H. Al‐Hamed, Alya Qari, Lamya Alrayes, Mohammed Alotaibi, Zainab Al Masseri, Afaf Alotaibi, Abdullah AlAshwal, Zuhair N. AlHassnan, Afaf Alsagheir

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Custom exome panel revealed new mutations in MAPK14 and novel mutation in RUNX2 gene in patients with PCOS by Yunus Arikan, Taylan Onat

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Progress in plant genome sequencing: research directions by M. K. Bragina, D. A. Afonnikov, E. A. Salina

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A Case Study Identified a New Mutation in the TTN Gene for Inherited Hypertrophic Cardiomyopathy by Dong J, Liu M, Chen Q, Zha L

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Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection by Li‐min Cui, Hua‐ying Hu, Xiao‐mei Zhai, Ming‐fei Qi, Yan‐ming Liu, Cong‐ying Han, Jing Zhang, Ming Shen, Yu‐lan Xiang, Wen‐qi Chen, Kai Yang, Dong‐liang Zhang, Huan‐xia Xing

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Identification of deleterious variants associated with male infertility genes in a cohort of idiopathic hypospermatogenesis patients by Nisha Sharma, Ashutosh Halder, Seema Kaushal, Manoj Kumar, Manish Jain

Subjects: “…whole exome sequencing…”
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Analysis of mutations in CDC27, CTBP2, HYDIN and KMT5A genes in carotid paragangliomas by E. N. Lukyanova, A. V. Snezhkina, D. V. Kalinin, A. V. Pokrovsky, A. L. Golovyuk, O. A. Stepanov, E. A. Pudova, G. S. Razmakhaev, M. V. Orlova, A. P. Polyakov, M. V. Kiseleva, A. D. Kaprin, A. V. Kudryavtseva

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Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer by Kyong-Ah Yoon, Sang Myung Woo, Yun-Hee Kim, Sun-Young Kong, Sung-Sik Han, Sang-Jae Park, Woo Jin Lee

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Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China by Chuan Huang, Li-Ming Chu, Bo Liang, Hui-Lan Wu, Bai-Shun Li, Shuai Ren, Mei-Ling Hou, Hong-Chuan Nie, Ling-Yin Kong, Li-Qing Fan, Juan Du, Wen-Bing Zhu

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Whole Exome Sequencing Reveals Rare Variants in Genes Associated with Metabolic Disorders in Women with PCOS by Priyal Sharma, Ashutosh Halder, Manish Jain, Manish Tripathi

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Identification of new candidate genes for the hereditary predisposition to uveal melanoma: IGCMU trial by Mélanie Godiveau, Mélanie Godiveau, Mélanie Godiveau, Angeline Ginzac, Angeline Ginzac, Angeline Ginzac, Yannick Bidet, Yannick Bidet, Flora Ponelle-Chachuat, Flora Ponelle-Chachuat, Maud Privat, Maud Privat, Xavier Durando, Xavier Durando, Xavier Durando, Xavier Durando, Mathias Cavaillé, Mathias Cavaillé, Mathis Lepage, Mathis Lepage

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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease by Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle, Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals, Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petrilli, Laurence Loeuillet, Sarah Grotto, Tania Attie-Bitach, Jose E Abdenur, Robert W Taylor, Michal Minczuk

Subjects: “…Exome Sequencing…”
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Investigation of the Frequency and Characteristic Features of De Novo Mutations in Clinical Exome Sequence Trio Samples by Ebru Marzioğlu-özdemir, Tülin Çora, Ozkan Bagci, Batuhan Şanlıtürk, Ali Torabi, Nadir Koçak

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Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy by Huafang Zou, Huafang Zou, Qian Zhang, Jianxiang Liao, Jianxiang Liao, Dongfang Zou, Zhanqi Hu, Bing Li, Li Chen, Jialun Wen, Xia Zhao, Victor Wei Zhang, Dezhi Cao, Dezhi Cao

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Steroid hormone receptors, exome sequencing and treatment responsiveness of breast cancer patient-derived xenografts originated in a South American country by Gabriela Pataccini, Andrés Elia, Gonzalo Sequeira, Luisa Ambrosio, Marcela Coianis, Caroline A. Lamb, Paola A. Rojas, Paula Martínez Vázquez, Javier Burruchaga, Eunice Spengler, Silvia I. Vanzulli, Martin Abba, Claudia Lanari

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Exome sequencing in Nigerian children with early‐onset epilepsy syndromes by Ibitayo Abigail Ademuwagun, Yagoub Adam, Solomon Oladapo Rotimi, Steffen Syrbe, Maximilian Radtke, Julia Hentschel, Johannes R. Lemke, Ezekiel Adebiyi

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