Results 1 to 10 of about 1,021,105 (352)

Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors

Nature Communications, 2017
Identifying the mutational landscape of tumours from cell-free DNA in the blood could help diagnostics in cancer. Here, the authors present ichorCNA, software that quantifies tumour content in cell free DNA, and they demonstrate that cell-free DNA whole ...
Viktor A. Adalsteinsson, Gavin Ha, Samuel S. Freeman, Atish D. Choudhury, Daniel G. Stover, Heather A. Parsons, Gregory Gydush, Sarah C. Reed, Denisse Rotem, Justin Rhoades, Denis Loginov, Dimitri Livitz, Daniel Rosebrock, Ignaty Leshchiner, Jaegil Kim, Chip Stewart, Mara Rosenberg, Joshua M. Francis, Cheng-Zhong Zhang, Ofir Cohen, Coyin Oh, Huiming Ding, Paz Polak, Max Lloyd, Sairah Mahmud, Karla Helvie, Margaret S. Merrill, Rebecca A. Santiago, Edward P. O’Connor, Seong H. Jeong, Rachel Leeson, Rachel M. Barry, Joseph F. Kramkowski, Zhenwei Zhang, Laura Polacek, Jens G. Lohr, Molly Schleicher, Emily Lipscomb, Andrea Saltzman, Nelly M. Oliver, Lori Marini, Adrienne G. Waks, Lauren C. Harshman, Sara M. Tolaney, Eliezer M. Van Allen, Eric P. Winer, Nancy U. Lin, Mari Nakabayashi, Mary-Ellen Taplin, Cory M. Johannessen, Levi A. Garraway, Todd R. Golub, Jesse S. Boehm, Nikhil Wagle, Gad Getz, J. Christopher Love, Matthew Meyerson   +56 more
doaj   +2 more sources

Exome sequencing and analysis of 454,787 UK Biobank participants

Nature, 2021
A major goal in human genetics is to use natural variation to understand the phenotypic consequences of altering each protein-coding gene in the genome. Here we used exome sequencing1 to explore protein-altering variants and their consequences in 454,787
J. Backman, Alexander Li, A. Marcketta, Dylan Sun, J. Mbatchou, M. D. Kessler, C. Benner, Daren Liu, A. Locke, S. Balasubramanian, A. Yadav, N. Banerjee, C. Gillies, A. Damask, Simon Liu, X. Bai, A. Hawes, E. Maxwell, L. Gurski, Kyoko Watanabe, J. Kosmicki, V. Rajagopal, Jason Mighty, Marcus Jones, L. Mitnaul, E. Stahl, G. Coppola, E. Jorgenson, L. Habegger, W. Salerno, A. Shuldiner, L. Lotta, J. Overton, M. Cantor, J. Reid, G. Yancopoulos, H. Kang, J. Marchini, A. Baras, G. Abecasis, M. Ferreira   +40 more
semanticscholar   +1 more source

Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis

Prenatal Diagnosis, 2022
We conducted a systematic review and meta‐analysis to determine the diagnostic yield of exome sequencing (ES) for prenatal diagnosis of fetal structural anomalies, where karyotype/chromosomal microarray (CMA) is normal.
Rhiannon Mellis, Kathryn Oprych, E. Scotchman, M. Hill, L. Chitty   +4 more
semanticscholar   +1 more source

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

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

Nature Genetics, 2022
Alzheimer’s disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70%1. The genetic component of AD has been mainly assessed using genome-wide association studies, which do not capture the risk contributed by rare ...
H. Holstege, M. Hulsman, C. Charbonnier, B. Grenier‐Boley, O. Quenez, D. Grozeva, J. V. van Rooij, R. Sims, S. Ahmad, N. Amin, P. Norsworthy, O. Dols-Icardo, H. Hummerich, A. Kawalia, P. Amouyel, G. Beecham, C. Berr, J. Bis, A. Boland, P. Bossù, F. Bouwman, J. Bras, D. Campion, J. N. Cochran, A. Daniele, J. Dartigues, S. Debette, J. Deleuze, N. Denning, A. Destefano, L. Farrer, M. Fernández, Nick C Fox, D. Galimberti, E. Genin, J. Gille, Y. Le Guen, Rita Guerreiro, J. Haines, C. Holmes, M. A. Ikram, M. Ikram, I. Jansen, R. Kraaij, M. Lathrop, A. Lemstra, A. Lleó, L. Luckcuck, M. Mannens, R. Marshall, E. Martin, C. Masullo, R. Mayeux, P. Mecocci, A. Meggy, M. Mol, K. Morgan, R. Myers, B. Nacmias, A. Naj, V. Napolioni, F. Pasquier, P. Pastor, M. Pericak-Vance, R. Raybould, R. Redon, M. Reinders, A. Richard, S. Riedel-Heller, F. Rivadeneira, S. Rousseau, N. Ryan, Salha A. Saad, P. Sánchez-Juan, G. Schellenberg, P. Scheltens, J. Schott, D. Seripa, S. Seshadri, D. Sie, E. Sistermans, S. Sorbi, R. van Spaendonk, G. Spalletta, N. Tesi, B. Tijms, A. Uitterlinden, S. J. van der Lee, P. Visser, M. Wagner, D. Wallon, Li-San Wang, A. Zaréa, J. Clarimón, J. V. van Swieten, M. Greicius, Jennifer S. Yokoyama, C. Cruchaga, J. Hardy, A. Ramírez, S. Mead, W. M. van der Flier, C. V. van Duijn, Julie Williams, G. Nicolas, C. Bellenguez, J. Lambert   +106 more
semanticscholar   +1 more source

Exome/Genome Sequencing in Undiagnosed Syndromes

Annual Review of Medicine, 2023
Exome sequencing (ES) and genome sequencing (GS) have radically transformed the diagnostic approach to undiagnosed rare/ultrarare Mendelian diseases. Next-generation sequencing (NGS), the technology integral for ES, GS, and most large (100+) gene panels,
J. Sullivan, K. Schoch, R. Spillmann, V. Shashi   +3 more
semanticscholar   +1 more source

Exome sequencing and genetic testing for MODY. [PDF]

PLoS ONE, 2012
Genetic testing for monogenic diabetes is important for patient care. Given the extensive genetic and clinical heterogeneity of diabetes, exome sequencing might provide additional diagnostic potential when standard Sanger sequencing-based diagnostics is ...
Stefan Johansson, Henrik Irgens, Kishan K Chudasama, Janne Molnes, Jan Aerts, Francisco S Roque, Inge Jonassen, Shawn Levy, Kari Lima, Per M Knappskog, Graeme I Bell, Anders Molven, Pål R Njølstad   +12 more
doaj   +1 more source

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Human Genomics, 2023
Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single ...
Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, Christian Gilissen, Solve-RD consortium   +11 more
doaj   +1 more source

Exome sequencing as first‐tier test for fetuses with severe central nervous system structural anomalies

Ultrasound in Obstetrics and Gynecology, 2022
Prenatally detected central nervous system (CNS) anomalies present a diagnostic challenge. In this study, we compared the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) in fetuses with a major CNS anomaly.
Y. Yaron, V. Ofen Glassner, A. Mory, N. Zunz Henig, A. Kurolap, A. Bar Shira, D. Brabbing Goldstein, D. Marom, L. Ben Sira, H. Baris Feldman, G. Malinger, K. Haratz, A. Reches   +12 more
semanticscholar   +1 more source

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   +1 more source