Results 31 to 40 of about 357,319 (349)

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

European Journal of Human Genetics, 2022
Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome sequencing (WES); however, additional diagnostic yields and costs remain undefined.
L. Ewans, A. Minoche, Deborah Schofield, R. Shrestha, C. Puttick, Ying Zhu, Alexander P. Drew, V. Gayevskiy, G. Elakis, Corrina Walsh, L. Adès, A. Colley, C. Ellaway, Carey-Anne Evans, M. Freckmann, L. Goodwin, A. Hackett, B. Kamien, E. Kirk, M. Lipke, D. Mowat, E. Palmer, S. Rajagopalan, A. Ronan, R. Sachdev, W. Stevenson, A. Turner, Meredith Wilson, L. Worgan, M. Morel-Kopp, M. Field, M. Buckley, M. Cowley, M. Dinger, T. Roscioli   +34 more
semanticscholar   +1 more source

cnvCapSeq: detecting copy number variation in long-range targeted resequencing data. [PDF]

, 2014
Targeted resequencing technologies have allowed for efficient and cost-effective detection of genomic variants in specific regions of interest. Although capture sequencing has been primarily used for investigating single nucleotide variants and indels ...
Bellos, Evangelos; https://orcid.org/, Bellos, Evangelos, Kumar, Vikrant, Cheng, C-Y, Cheng, CY, Wong, TYI, Davila, S, Bellos, E, Phua, ZYA, Maggi, Jordi; https://orcid.org/, Lin, C, Phua, Zai Yang, Coin, Lachlan J M, Coin, LJM, Hibberd, ML, Hibberd, Martin L., Wong, TY, Cheng, Ching-Yu, Gemmy Cheung, CM, Cheung, CMIG, Coin, Lachlan JM, Yang Phua, Z, Lin, Clarabelle, Maggi, Jordi, Kumar, V, Cheng, Ching Yu, Maggi, J, Hibberd, Martin L, Coin, Lachlan J.M., Cheung, Chui Ming Gemmy, Davila, Sonia, Wong, Tien Yin   +31 more
core   +1 more source

Diagnostic applications of next generation sequencing: working towards quality standards [PDF]

, 2012
Over the past 6 years, next generation sequencing (NGS) has been established as a valuable high-throughput method for research in molecular genetics and has successfully been employed in the identification of rare and common genetic variations. All major
Klein, Hanns-Georg, Biskup, S., Vogl, Ina, Hirv, K., Greif, P.A., Kotschote, S., Gehring, A., Kuhn, M., Stuhrmann, Manfred, Bergmann, C., Eck, Sebastian H., Biskup, Saskia, Metzeler, Klaus H., Greif, Philipp A., Stuhrmann, M., Bolz, Hanno Joern, Benet-Pages, Anna, Hirv, Kaimo, Benet-Pagès, A., Klein, H.G., Vogl, I., Bolz, H.J., Kuhn, Marius, Kotschote, Stefan, Gehring, Andrea, Bergmann, Carsten, Metzeler, K.H., Eck, S.H.   +27 more
core   +1 more source

The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health

Frontiers in Pediatrics, 2021
Newborn screening (NBS) is a population-based program with a goal of reducing the burden of disease for conditions with significant clinical impact on neonates.
A. Woerner, R. Gallagher, J. Vockley, Aashish N. Adhikari   +3 more
semanticscholar   +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

Chromosome 13 Whole Exome Sequencing Results. [PDF]

, 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

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE

Clinical Genetics, 2020
EVIDENCE, an automated variant prioritization system, has been developed to facilitate whole exome sequencing analyses. This study investigated the diagnostic yield of EVIDENCE in patients with suspected genetic disorders.
G. Seo, Taeho Kim, I. Choi, Jung-young Park, Jungsul Lee, Sehwan Kim, Dhong-Gun Won, Arum Oh, Yena Lee, Jeongmin Choi, Hajeong Lee, H. Kang, H. Cho, M. Cho, Y. Kim, Y. Yoon, B. Eun, R. Desnick, Changwon Keum, B. Lee   +19 more
semanticscholar   +1 more source

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. [PDF]

, 2011
Background: Primary lymphoedema describes a chronic, frequently progressive, failure of lymphatic drainage. This disorder is frequently genetic in origin, and a multigenerational family in which eight individuals developed postnatal lymphoedema of all ...
Ostergaard, P, Connell, Fiona C., Simpson, MA, S. Mansour, G. Brice, P. S. Mortimer, Connell, FC, Jeffery, S, M. A. Simpson, Child, Anne H., Mansour, S, R. Trembath, F. C. Connell, A. Onoufriadis, Trembath, Richard, Mortimer, Peter S, Mortimer, Peter S., Mansour, Sahar, Kalidas, Kamini, Trembath, R, Brice, Glen, Child, AH, P. Ostergaard, Jeffery, Steve, Mortimer, PS, Ostergaard, Pia, J. Hwang, K. Kalidas, A. H. Child, Hwang, J, Simpson, Michael A, Onoufriadis, A, Connell, Fiona, S. Jeffery, Simpson, Michael A., Brice, G, Hwang, Jae, Kalidas, K, Onoufriadis, Alexandros, Child, Anne H   +39 more
core   +1 more source

Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing [PDF]

Diabetes & Metabolism Journal, 2015
BackgroundAlström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness.
Min Kyeong Kim, Soo Heon Kwak, Shinae Kang, Hye Seung Jung, Young Min Cho, Seong Yeon Kim, Kyong Soo Park   +6 more
doaj   +1 more source

Whole‐exome sequencing for variant discovery in blepharospasm [PDF]

Molecular Genetics & Genomic Medicine, 2018
AbstractBackgroundBlepharospasm (BSP) is a type of focal dystonia characterized by involuntary orbicularis oculi spasms that are usually bilateral, synchronous, and symmetrical. Despite strong evidence for genetic contributions to BSP, progress in the field has been constrained by small cohorts, incomplete penetrance, and late age of onset.
Jun Tian, Satya R. Vemula, Jianfeng Xiao, Enza Maria Valente, Giovanni Defazio, Simona Petrucci, Angelo Fabio Gigante, Monika Rudzińska‐Bar, Zbigniew K. Wszolek, Kathleen D. Kennelly, Ryan J. Uitti, Jay A. van Gerpen, Peter Hedera, Elizabeth J. Trimble, Mark S. LeDoux   +14 more
openaire   +5 more sources