Results 11 to 20 of about 357,319 (349)

Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders

Frontiers in Genetics, 2020
Background: Both whole exome sequencing and copy number variants sequencing were applied to identify the genetic cause of rare pediatric disorders.
Xuyun Hu, Xuyun Hu, Xuyun Hu, Ruolan Guo, Ruolan Guo, Ruolan Guo, Jun Guo, Jun Guo, Jun Guo, Zhan Qi, Zhan Qi, Zhan Qi, Wei Li, Wei Li, Wei Li, Chanjuan Hao, Chanjuan Hao, Chanjuan Hao   +17 more
doaj   +3 more sources

Whole exome sequencing: a new era in prenatal diagnostics [PDF]

Journal of Translational Medicine
Background Advances in bioinformatics have revealed the potential of whole exome sequencing (WES) for copy number variations (CNVs) detection. This study aimed to evaluate whether WES can replace low pass copy number variation sequencing (CNV-seq) for ...
Panlai Shi, Conghui Wang, Yanjie Xia, Zili Li, Zhi Gao, Xiangdong Kong   +5 more
doaj   +2 more sources

Whole-exome sequencing of a pedigree segregating asthma [PDF]

BMC Medical Genetics, 2012
Background Despite the success of genome-wide association studies for asthma, few, if any, definitively causal variants have been identified and there is still a substantial portion of the heritability of the disease yet to be discovered.
DeWan Andrew T, Egan Kathryn Brigham, Hellenbrand Karen, Sorrentino Keli, Pizzoferrato Nicole, Walsh Kyle M, Bracken Michael B   +6 more
doaj   +5 more sources

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing [PDF]

Molecular Genetics & Genomic Medicine, 2020
Background Congenital dyserythropoiesis anemia type Ia (OMIM:224120), is a rare hereditary anemia. The diagnosis is difficult to make and usually delayed in part due to its rarity and nonspecific clinical manifestations.
Pei‐Chin Lin, Chao‐Neng Cheng, Hsi‐Yuan Huang, Yu‐Hsin Tseng, Ya‐Sian Chang, Chien‐Yu Lin, Jan‐Gowth Chang   +6 more
doaj   +2 more sources

Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank

bioRxiv, 2022
Phasing involves distinguishing the two parentally inherited copies of each chromosome into haplotypes. Here, we introduce SHAPEIT5, a new phasing method that quickly and accurately processes large sequencing datasets and applied it to UK Biobank (UKB ...
R. Hofmeister, D. Ribeiro, S. Rubinacci, O. Delaneau   +3 more
semanticscholar   +1 more source

Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia.

American Journal of Human Genetics, 2022
Non-obstructive azoospermia (NOA) is a severe and frequent cause of male infertility, often treated by testicular sperm extraction followed by intracytoplasmic sperm injection.
Z. Kherraf, Caroline Cazin, A. Bouker, Sélima Fourati Ben Mustapha, S. Hennebicq, A. Septier, C. Coutton, L. Raymond, M. Nouchy, Nicolas Thierry-Mieg, R. Zouari, C. Arnoult, P. Ray   +12 more
semanticscholar   +1 more source

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Annals of Clinical and Translational Neurology, 2022
Cerebral palsy (CP) is the most common childhood motor disability, yet its link to single‐gene disorders is under‐characterized. To explore the genetic landscape of CP, we conducted whole exome sequencing (WES) in a cohort of patients with CP.
M. Chopra, D. Gable, Jamie A. Love-Nichols, Alexa Tsao, S. Rockowitz, P. Śliż, Elizabeth Barkoudah, Lucia Bastianelli, D. Coulter, E. Davidson, Claudio DeGusmao, David J Fogelman, K. Huth, Paige Marshall, D. Nimec, J. Sanders, B. Shore, B. Snyder, S. Stone, A. Ubeda, C. Watkins, C. Berde, J. Bolton, C. Brownstein, M. Costigan, D. Ebrahimi‐Fakhari, Abbe Lai, A. O’Donnell-Luria, A. Paciorkowski, Anna L. R. Pinto, John Pugh, Lance H Rodan, E. Roe, L. Swanson, Bo Zhang, M. Kruer, M. Sahin, A. Poduri, S. Srivastava   +38 more
semanticscholar   +1 more source

Whole-exome sequencing result. [PDF]

, 2023
BackgroundNeurogenetic disorders (NGDs) are complex Mendelian disorders that affect the neurological system. A molecular diagnosis will provide more information about pathophysiology, prognosis, and therapy, including future genetic therapy options ...
Kania Diantika (17283553), Elisabeth Siti Herini (13949002), Andika Priamas Nugrahanto (17283550), Kristy Iskandar (225273), Marissa Leviani Hadiyanto (17283547), Agung Triono (14035002), Veronica Wulan Wijayanti (17283556)   +6 more
core   +1 more source

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

Genetics in Medicine, 2018
Taghrid Aloraini, Abdulrahman Alswaid, Fuad Al Mutairi   +2 more
exaly   +2 more sources

Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing

Nature Biotechnology, 2021
Clinical applications of precision oncology require accurate tests that can distinguish true cancer-specific mutations from errors introduced at each step of next-generation sequencing (NGS). To date, no bulk sequencing study has addressed the effects of
Wenming Xiao, Luyao Ren, Zhong Chen, Li Tai Fang, Yongmei Zhao, J. Lack, Meijian Guan, B. Zhu, Erich Jaeger, L. Kerrigan, Thomas M Blomquist, T. Hung, M. Sultan, K. Idler, Charles Lu, A. Scherer, R. Kusko, Malcolm Moos, Chunlin Xiao, S. Sherry, O. Abaan, Wanqiu Chen, Xin Chen, J. Nordlund, U. Liljedahl, R. Maestro, Maurizio Polano, J. Drábek, P. Vojta, S. Kõks, E. Reimann, B. Madala, T. Mercer, Christine H. Miller, H. Jacob, Tiffany Truong, A. Moshrefi, A. Natarajan, Ana Granat, G. Schroth, R. Kalamegham, Eric Peters, Virginie Petitjean, Ashley Walton, Tsai-wei Shen, Keyur Talsania, C. Vera, K. Langenbach, M. de Mars, Jennifer A. Hipp, J. Willey, Jing Wang, Jyoti Shetty, Yuliya Kriga, A. Raziuddin, Bao Tran, Yuanting Zheng, Ying Yu, M. Cam, Parthav Jailwala, Cu Nguyen, D. Meerzaman, Qingrong Chen, Chunhua Yan, Ben Ernest, Urvashi Mehra, R. Jensen, W. Jones, Jian-liang Li, Brian N. Papas, M. Pirooznia, Yun-Ching Chen, F. Seifuddin, Zhipan Li, Xuelu Liu, W. Resch, Jingya Wang, Leihong Wu, Gökhan Yavas, Corey J. Miles, B. Ning, W. Tong, C. Mason, Eric Donaldson, Samir Lababidi, L. Staudt, Z. Tezak, H. Hong, Charles Wang, Leming Shi   +89 more
semanticscholar   +1 more source