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

“…We had analyzed 10 exome sequencing data and single nucleotide polymorphism chips for blood cancer provided by the PGM21 (The National Project for Personalized Genomic Medicine) Award program. …”
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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

“…Molecular analysis included DNA fragmentation, ligation, target enrichment, library preparation, and whole‐exome sequencing. Computational analysis involved variant calling, curation, and classification using specialized tools and databases. …”
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Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants by Kyung Kim, Moon-Woo Seong, Won-Hyong Chung, Sung Sup Park, Sangseob Leem, Won Park, Jihyun Kim, KiYoung Lee, Rae Woong Park, Namshin Kim

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

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Whole exome sequencing identifies genomic alterations in proximal and distal colorectal cancer by Ryia-Illani Mohd Yunos, Nurul-Syakima Ab Mutalib, Sheau Sean Khor, Sazuita Saidin, Mohd Ridhwan Abd Razak, Norshahidah Mahamad Nadzir, Zuraini Abd. Razak, Isa Mohamed Rose, Ismail Sagap, Luqman Mazlan, Nadiah Abu, Rahman Jamal

“…The objectives of this study were to determine the somatic single nucleotide variants (SNV) and the cellular pathways between the proximal and distal CRCs. Whole exome sequencing was performed on the Ion Proton platform on 10 pairs of normal and CRC samples. …”
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Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing by Ahmed Bouhouche, Houyam Tibar, Yamna Kriouale, Mohammed Jiddane, Imane Smaili, Naima Bouslam, Ali Benomar, Mohamed Yahyaoui, Elmostafa El Fahime

“…Recently, whole exome sequencing (WES) has become increasingly used when a strong hypothesis cannot be formulated based on the clinical phenotype. …”
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Whole exome sequencing-based homologous recombination deficiency test for epithelial ovarian cancer by Ying-Cheng Chiang, Hsien-Neng Huang, Kuan-Ting Kuo, Wuh-Liang Hwu, Po-Han Lin

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Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma by Milena Urbini, Margherita Nannini, Annalisa Astolfi, Valentina Indio, Valentina Vicennati, Matilde De Luca, Giuseppe Tarantino, Federica Corso, Maristella Saponara, Lidia Gatto, Donatella Santini, Guido Di Dalmazi, Uberto Pagotto, Renato Pasquali, Andrea Pession, Guido Biasco, Maria A. Pantaleo

“…However, despite the wide number of alterations until now reported in PCCs, it is likely that other susceptibility genes remain still unknown, especially for those PCCs not clearly syndromic. Methods. Whole exome sequencing of tumor DNA was performed on a set of twelve PCCs clinically defined as sporadic. …”
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Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases by Gerald Goh, Murim Choi

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Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders by Heonjong Han, Go Hun Seo, Seong-In Hyun, Kisang Kwon, Seung Woo Ryu, Rin Khang, Eugene Lee, JiHye Kim, Yongjun Song, Won Chan Jeong, Joohyun Han, Dong-wook Kim, Soyeon Yang, Sohyun Lee, Sohyun Jang, Jungsul Lee, Hane Lee

“…Abstract We investigated the effectiveness of exome sequencing (ES) in diagnosing ethnically diverse patients with rare genetic disorders. …”
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Trio-based whole-exome sequencing reveals mutations in early-onset high myopia by Ding Chen, Xiu-Feng Huang, Juan Huang, Yi-Ming Guo, Junhan Wei, Lu Ye, Yi-Xin Cai, Jiejing Bi, Fen-Fen Li

“…This study aimed to elucidate the genetic foundations associated with early-onset HM (eoHM) while delineating the genetic landscape specific to Shaanxi province, China.Methods A comprehensive analysis of whole-exome sequencing was conducted involving 26 familial trios displaying eoHM. …”
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Revealing Genomic Profile That Underlies Tropism of Myeloma Cells Using Whole Exome Sequencing by Youngil Koh, Daeyoon Kim, Woo-June Jung, Kwang-Sung Ahn, Sung-Soo Yoon

“…We tried to define genetic changes specific for each cell line using whole exome sequencing (WES). Materials and Methods. We extracted DNA from SNU_MM1393_BM and SNU_MM1393_SC and performed WES. …”
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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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Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients by Doudou Chen, Tao Yang, Siquan Zhu

“…To identify likely pathogenic variants in three families with congenital cataracts via panel-based exome sequencing. Methods. A panel containing 153 genes associated with congenital cataracts was designed. …”
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Validity of patient-derived xenograft mouse models for lung cancer based on exome sequencing data by Jaewon Kim, Hwanseok Rhee, Jhingook Kim, Sanghyuk Lee

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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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Genetic Risk Prediction for Normal-Karyotype Acute Myeloid Leukemia Using Whole-Exome Sequencing by Seong Gu Heo, Eun Pyo Hong, Ji Wan Park

“…We searched for somatic mutations from 10 pairs of tumor and normal cells by using a highly efficient and reliable analysis workflow for whole-exome sequencing data and performed association tests between the NK-AML and somatic mutations. …”
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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease. by 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

“…We aimed to explore the outcome of whole-exome sequencing (WES) in a cohort of 51 patients with this diagnosis.…”
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Whole exome sequencing enables the correct diagnosis of Frank–Ter Haar syndrome in a Saudi family by Y. N. Khan, M. Imad A.M. Mahmud, N. Othman, H. M. Radzuan, S. Basit

Subjects: “…exome sequencing…”
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Correction: Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease. by 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

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