Results 21 to 30 of about 2,882,218 (304)

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

Whole-exome sequencing and bioinformatic analyses revealed differences in gene mutation profiles in papillary thyroid cancer patients with and without benign thyroid goitre background

, 2022
Whole-exome sequencing single nucleotide variant annotation ...
Mardiaty Iryani Abdullah (14249240), Zing Hong Eng (14234888), Azlina Abdul Aziz (14249233), Khoon Leong Ng (14249234), Nurullainy Mat Rashid (14249241), Nurul Hannis Arba’ie (14249237), Sarni Mat junit (768536)   +6 more
core   +1 more source

From Genomes to GENE-omes: Exome Sequencing Concept and Applications in Crop Improvement

Frontiers in Plant Science, 2017
Exome sequencing represents targeted capture and sequencing of 1–2% of ‘high-value genomic regions’ (subset of the genome) which are enriched for functional variants and harbors low level of repetitive regions.
Parampreet Kaur, Kishor Gaikwad
doaj   +1 more source

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis‐van Creveld syndrome

Molecular Genetics & Genomic Medicine, 2023
Background Pathogenic mutations in EVC or EVC2 gene can lead to Ellis‐van Creveld (EvC) syndrome, which is a rare autosomal recessive skeletal dysplasia disorder.
Jianlong Zhuang, Shufen Liu, Junyu Wang, Yu'e Chen, Hegan Zhang, Yuying Jiang, Gaoxiong Wang, Chunnuan Chen   +7 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

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants [PDF]

Proceedings of the National Academy of Sciences, 2014
Abstract We compared whole-exome sequencing (WES) and whole-genome sequencing (WGS) in six unrelated individuals. In the regions targeted by WES capture (81.5% of the consensus coding genome), the mean numbers of single-nucleotide variants (SNVs) and small insertions/deletions (indels) detected per sample were 84,192 and 13,325 ...
Belkadi, Aziz, Bolze, Alexandre, Itan, Yuval, Cobat, Aurelie, Vincent, Quentin B, Antipenko, Alexander, Shang, Lei, Boisson, Bertrand, Casanova, Jean-Laurent, Abel, Laurent   +9 more
openaire   +2 more sources

Detection of Somatic Copy Number Alterations in Cancer Using Targeted Exome Capture Sequencing

Neoplasia: An International Journal for Oncology Research, 2011
The research community at large is expending considerable resources to sequence the coding region of the genomes of tumors and other human diseases using targeted exome capture (i.e., “whole exome sequencing”).
Robert J. Lonigro, Catherine S. Grasso, Dan R. Robinson, Xiaojun Jing, Yi-Mi Wu, Xuhong Cao, Michael J. Quist, Scott A. Tomlins, Kenneth J. Pienta, Arul M. Chinnaiyan   +9 more
doaj   +1 more source

Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report

Journal of Medical Case Reports, 2023
Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination.
Niharika Duggirala, Kathie J. Ngo, Sabrina M. Pagnoni, Alberto L. Rosa, Brent L. Fogel   +4 more
doaj   +1 more source

Characterisation and validation of insertions and deletions in 173 patient exomes. [PDF]

, 2012
Recent advances in genomics technologies have spurred unprecedented efforts in genome and exome re-sequencing aiming to unravel the genetic component of rare and complex disorders.
Bonfiglio S., Francesco Lescai, Henry Houlden (110428), Williams Julie, Richard Williams (29445), Donna Mackay (110441), Hubank M., John Hardy (23295), Kasperavičiūtė, D, John C. Achermann (110416), Bacchelli, C, Denise Harold, Sisodiya Sanjay M., Bacchelli C., Henry Houlden, Tonini G. P., Hardy John, David Kelsell (110422), Hardy, J, Bonfiglio, S, Harold D., Silvia Bonfiglio (110384), Kelsell, D, Kelsell David, Wood N., Elia Stupka (23015), Harold, D, Kasperaviciute D., Jane Sowden (110446), Beales, P, Chiara Bacchelli (110388), Tonini, GP, Lescai, F, Kleta R., Aoife Waters, Vulliamy Tom, Osinska Justyna, Jane Sowden, Justyna Osinska (110450), Lescai Francesco, Sheerin, U, Estelle Chanudet (110393), Tony Brooks (110451), Kasperavičiūtė Dalia, Philip Beales (110453), Hubank Mike, Estelle Chanudet, Una Sheerin (110436), Houlden Henry, Beales P., Silvia Bonfiglio, Williams J., Bacchelli Chiara, Kleta, R, Sebahattin Cirak, Kinsler V., Anderson J., Williams R., Elia Stupka, Brooks Tony, Sowden, J, Veronica Kinsler, Houlden, H, Chanudet, E, Hardy J., Anderson John, Dalia Kasperavičiūtė (110404), Mackay, D, Sheerin Una, Anderson, J, Sowden J., Williams, R, Waters Aoife, Achermann John C., Williams, J, Stupka, E, Harold Denise, Tom Vulliamy, Brooks T., Mackay Donna, Achermann J. C., Sisodiya S. M., Stupka Elia, Nicholas Wood (110432), Sanjay M. Sisodiya (110401), John Anderson (11218), Houlden H., Julie Williams, John C Achermann, Gian Paolo Tonini, Julie Williams (110407), John Hardy, Stupka E., Beales Philip, Lescai F., Wood Nicholas, Wood, N, Mackay D., Cirak, S, Justyna Osinska, Philip Beales, Tonini Gian Paolo, Richard Williams, Una Sheerin, Cirak S., Veronica Kinsler (110449), Kinsler Veronica, John Anderson, Mike Hubank, Dalia Kasperavičiūtė, Sisodiya, SM, Gian Paolo Tonini (110438), Cirak Sebahattin, Hussain Khalid, Denise Harold (110410), Francesco Lescai (110380), Chanudet E., Chanudet Estelle, Hubank, M, Williams Richard, David Kelsell, Robert Kleta, Waters, A, Donna Mackay, Khalid Hussain, Sowden Jane, Achermann, JC, Sanjay M Sisodiya, Sebahattin Cirak (110413), Robert Kleta (56515), Mike Hubank (110452), Vulliamy T., Hussain, K, Bonfiglio Silvia, Nicholas Wood, Kleta Robert, Tom Vulliamy (110425), Osinska, J, Brooks, T, Tony Brooks, Hussain K., Waters A., Kelsell D., Chiara Bacchelli, Aoife Waters (110398), Khalid Hussain (110443), Vulliamy, T, Osinska J., Sheerin U., Kinsler, V   +149 more
core   +1 more source

Sample coverage information from whole exome sequencing analysis.

, 2023
Sample coverage information from whole exome sequencing analysis.
Ahmet Acar (15008049), Tugce Dilber (17048226), Gizem Damla Yalcin (17048223), Kubra Celikbas Yilmaz (16523463)   +3 more
core   +1 more source