Results 51 to 60 of about 2,746,413 (301)

Whole-exome sequencing in a recombinant inbred line population of hexaploid wheat as a useful resource for allele mining

, 2022
Sequence variants (SNPs) identified through whole exome sequencing in bread ...
salvatorre Esposito (11224014)
core   +1 more source

The GENCODE exome: sequencing the complete human exome [PDF]

, 2011
Sequencing the coding regions, the exome, of the human genome is one of the major current strategies to identify low frequency and rare variants associated with human disease traits.
Palta, P, Turner, DJ, Harrow, J, Lehesjoki, AE, Eleanor Drury, Kokocinski, Felix, Drury, Eleanor, Palotie, A, Scott, Carol E, Hubbard, TJ, Palta, Priit, Scott, CE, Sarah Hunt, Lehesjoki, Anna-Elina, Tim J Hubbard, Harrow, Jen, Hunt, Sarah, Leproust, EM, Felix Kokocinski, Joyce, Christopher J, Joyce, CJ, Carol E Scott, Jen Harrow, Anna-Elina Lehesjoki, Maria S Calafato, Aarno Palotie, Calafato, MS, Priit Palta, Hunt, S, Kokocinski, F, Christopher J Joyce, Palotie, Aarno, Turner, Daniel J, Coffey, AJ, Coffey, Alison J, Alison J Coffey, Leproust, Emily M, Drury, E, Daniel J Turner, Hubbard, Tim, Calafato, Maria S, Emily M LeProust, Hubbard, Tim J; id_orcid   +42 more
core   +1 more source

Isolation of single cells from human hepatoblastoma tissues for whole-exome sequencing

STAR Protocols, 2023
Summary: By combining single-cell processing with whole-exome sequencing, we have developed single-cell whole-exome sequencing to investigate the mechanisms of hepatoblastoma development and to provide potential targets and therapeutic approaches for ...
Jian He, Mei Meng, Xianchao Zhou, Rui Gao, Hui Wang   +4 more
doaj   +1 more source

Chromosome 13 Whole Exome Sequencing Results.

, 2021
Chromosome 13 results are displayed from whole exome sequencing of Card19lxcn mice. (DOCX)
Leonel Joannas (11565506), Opher S. Kornfeld (11565494), Elise Krespan (11565500), Benjamin Demarco (11565485), Elisabet Bjanes (11565479), Bettina L. Lee (7388093), Reyna Garcia Sillas (11565482), Dorothy Tovar (11565503), Alexandra A. DeLaney (11565491), Petr Broz (383934), Eric M. Rodríguez López (11565497), Rina Matsuda (5495699), Kaiwen W. Chen (11565509), Meghan A. Wynosky-Dolfi (3217632), Timothée Fettrelet (11565488), Daniel Grubaugh (5927699), Daniel P. Beiting (7329887), Jorge Henao-Mejia (3217623), Naomi H. Philip (3217647), Brian C. Schaefer (10834574), Igor E. Brodsky (11565512)   +20 more
core   +1 more source

Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing. [PDF]

, 2020
Background Various blood diseases are caused by mutations in the FANCA, FANCC, and ITGA2B genes. Exome sequencing is a suitable method for identifying single-gene disease and genetic heterogeneity complaints.
Zamani, Mina, Seifi, Tahereh, Mazaheri, Neda, Sedighzadeh, Sahar, Galehdari, Hamid, Negahdari, Samira, Saberi, Alihossein, Shariati, Gholamreza, Sedaghat, Alireza, Hamid, Mohammad, Radpour, Ramin, Zeighami, Jawaher, Keikhaei, Bijan   +12 more
core   +2 more sources

Whole-exome sequencing quality data.

, 2018
Whole-exome sequencing quality data.
Jens Magnus Bernth Jensen (216015), Mette Christiansen (5215937), Anne-Mette Hvas (447765), Anette Tarp Hansen (5215934)   +3 more
core   +1 more source

WEGS: a cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome [PDF]

, 2023
Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding DNA regions and helps elucidate the genetic underpinnings of human health and diseases.
Wei, Claire, Schindewolf, Marc, Bourque, Guillaume, Baumgartner, Iris, Mooser, Vincent, Taliun, Daniel, Paccard, Antoine, Perley, Danielle, Bourgey, Mathieu, Caron, Elizabeth, Asbah, Nimara Bader, Lefebvre, François, Döring, Yvonne, Eveleigh, Robert, Ravindran, Praveen Nadukkalam, Trajanoska, Katerina, St-Cry, Janick, Ragoussis, Jiannis, Bhérer, Claude, Lepage, Pierre   +19 more
core   +2 more sources

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next‐Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Next‐generation sequencing (NGS) has emerged as a promising approach to improve diagnostic accuracy, but its feasibility in low‐ and middle‐income countries remains unknown. This study characterized the diagnostic landscape and assessed organizational readiness for NGS implementation at two childhood cancer treatment centers in Accra ...
Melissa Carvalho, Emmanuella Amoako, Nihad Salifu, Lily Gloria Tagoe, Yaw Bediako, Michelle Hermiston, Catherine Segbefia   +6 more
wiley   +1 more source

Translating whole‐genome doubling into precision medicine in cancer

Molecular Oncology, EarlyView.
Whole‐genome doubling creates a WGD‐positive tumor state characterized by persistent chromosomal instability, karyotypic diversification, and cellular stress. These same biological pressures drive aggressive tumor evolution while exposing therapeutic vulnerabilities, providing a rationale for WGD‐informed precision medicine. Whole‐genome doubling (WGD)
Sejung Lee, Junghyeok Lim, Jinhyuk Bhin
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source