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…”
Get full text

Bioinformatics Interpretation of Exome Sequencing: Blood Cancer by Jiwoong Kim, Yun-Gyeong Lee, Namshin Kim

Subjects: Get full text

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

Subjects: Get full text

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…”
Get full text

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

Subjects: Get full text

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

Subjects: Get full text

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

Subjects: Get full text

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

Subjects: Get full text

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

Subjects: Get full text

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

Subjects: Get full text

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

Subjects: Get full text

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

Subjects: Get full text

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

Subjects: Get full text

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…”
Get full text

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

Subjects: Get full text

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

Subjects: Get full text

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

Subjects: Get full text

A rare haplotype of the GJD3 gene segregating in familial Meniere’s disease interferes with connexin assembly by Alba Escalera-Balsera, Paula Robles-Bolivar, Alberto M. Parra-Perez, Silvia Murillo-Cuesta, Han Chow Chua, Lourdes Rodríguez-de la Rosa, Julio Contreras, Ewa Domarecka, Juan Carlos Amor-Dorado, Andrés Soto-Varela, Isabel Varela-Nieto, Agnieszka J. Szczepek, Alvaro Gallego-Martinez, Jose A. Lopez-Escamez

Subjects: Get full text

Exploratory analysis of a Novel RACK1 mutation and its potential role in epileptic seizures via Microglia activation by Sai Zhang, Zhaofei Dong, Jing Guo, Ze Li, Hong Wu, Linming Zhang, Fuli Min, Tao Zeng

Subjects: Get full text

DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders by Dandan Wu, Ran Chen, Jerry Zhang, Wu Yan, Mengyin Chen, Dongqing Xia, Xiaonan Li, Yanyan Dai, Yinhua Chen, Rong Li

Subjects: Get full text