Results 11 to 20 of about 124,431 (304)

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

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

Whole-exome sequencing of oral epithelial dysplasia samples reveals an association with new genes [PDF]

Brazilian Oral Research, 2023
The genetic basis of oral epithelial (OED) is unknown, and there is no reliable method for evaluating the risk of malignant transformation. Somatic mutations are responsible for the transformation of dysplastic mucosa to invasive cancer.
Daniela ADORNO-FARIAS, Jean Nunes dos SANTOS, Wilfredo GONZÁLEZ-ARRIAGADA, Sandra TARQUINIO, Rodrigo Alberto SANTIBÁÑEZ PALOMINOS, Alberto Jesus MARTÍN MARTÍN, Ricardo FERNANDEZ-RAMIRES   +6 more
doaj   +1 more source

A decade with whole exome sequencing in haematology [PDF]

British Journal of Haematology, 2019
SummaryThe first decade of capture‐based targeted whole exome sequencing (WES) has now passed, while the sequencing modality continues to find more widespread usage in clinical research laboratories and still offers an unprecedented diagnostic assay in terms of throughput, informational content and running costs.
Marcus C. Hansen, Torsten Haferlach, Charlotte G. Nyvold   +2 more
openaire   +2 more sources

Evaluating the coverage and potential of imputing the exome microarray with next-generation imputation using the 1000 Genomes Project. [PDF]

PLoS ONE, 2014
Next-generation genotyping microarrays have been designed with insights from large-scale sequencing of exomes and whole genomes. The exome genotyping arrays promise to query the functional regions of the human genome at a fraction of the sequencing cost,
Erwin Tantoso, Lai-Ping Wong, Bowen Li, Woei-Yuh Saw, Wenting Xu, Peter Little, Rick Twee-Hee Ong, Yik-Ying Teo   +7 more
doaj   +1 more source

Quantifying single nucleotide variant detection sensitivity in exome sequencing [PDF]

, 2013
BACKGROUND: The targeted capture and sequencing of genomic regions has rapidlydemonstrated its utility in genetic studies. Inherent in this technology isconsiderable heterogeneity of target coverage and this is expected tosystematically impact our ...
Taylor, Martin S.; id_orcid, Andrew P Jackson, Alison M Meynert, Jackson, Andrew, Bicknell, Louise, Martin S Taylor, Matthew E Hurles, Meynert, Alison, Louise S Bicknell   +8 more
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Whole Exome Sequencing

Rinsho Shinkeigaku, 2010
Over the years there have been many different approaches and techniques that have been utilized to gather genetic information on family and patient data. Early on these focused on using family information and the pattern of inheritance of the disease in the family.
Nuytemans, Karen, Vance, Jeffery M.
openaire   +3 more sources

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Nature Communications, 2020
With the generation of large pan-cancer whole-exome and whole-genome sequencing projects, a question remains about how comparable these datasets are. Here, using The Cancer Genome Atlas samples analysed as part of the Pan-Cancer Analysis of Whole Genomes
Matthew H. Bailey, William U. Meyerson, Lewis Jonathan Dursi, Liang-Bo Wang, Guanlan Dong, Wen-Wei Liang, Amila Weerasinghe, Shantao Li, Yize Li, Sean Kelso, MC3 Working Group, PCAWG novel somatic mutation calling methods working group, Gordon Saksena, Kyle Ellrott, Michael C. Wendl, David A. Wheeler, Gad Getz, Jared T. Simpson, Mark B. Gerstein, Li Ding, PCAWG Consortium   +20 more
doaj   +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
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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

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
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