Results 21 to 30 of about 2,746,413 (301)

Large-scale Whole-Exome Sequencing Defines the Protein-Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases. [PDF]

Adv Sci (Weinh)
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Li J, Ge Y, Du J, Yang L, Wu B, Hang C, Shen M, Mao Y, Zhang T, Bo Q, Zhao T, Jiao Y, Wang Y, Gao S, Chen J, Sun J, Li T, Jia H, Dou Y, Cheng W, Wan X, Yu J, Sun X, Lu B.   +23 more
europepmc   +2 more sources

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

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

Whole Exome Sequencing [PDF]

Obstetrics and Gynecology Clinics of North America, 2018
Prenatal whole exome sequencing (WES) has the potential to increase the ability to provide more diagnostic capabilities in fetuses with sonographic abnormalities, which would then improve the ability to counsel families. It is also often the first step in improving the path toward informed diagnosis and treatment, which is especially important in the ...
Angie C, Jelin, Neeta, Vora
openaire   +2 more sources

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

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

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
core   +1 more source

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
core   +1 more source