Cargando…

The use of whole-exome sequencing to disentangle complex phenotypes

The success of whole-exome sequencing to identify mutations causing single-gene disorders has been well documented. In contrast whole-exome sequencing has so far had limited success in the identification of variants causing more complex phenotypes that seem unlikely to be due to the disruption of a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Williams, Hywel J, Hurst, John R, Ocaka, Louise, James, Chela, Pao, Caroline, Chanudet, Estelle, Lescai, Francesco, Stanescu, Horia C, Kleta, Robert, Rosser, Elisabeth, Bacchelli, Chiara, Beales, Philip
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Short Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717198/ https://www.ncbi.nlm.nih.gov/pubmed/26059842 http://dx.doi.org/10.1038/ejhg.2015.121

Ejemplares similares

STAG3 truncating variant as the cause of primary ovarian insufficiency
por: Le Quesne Stabej, Polona, et al.
Publicado: (2016)

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes
por: Le Quesne Stabej, Polona, et al.
Publicado: (2017)

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes
por: Waters, Aoife M, et al.
Publicado: (2015)

Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes
por: Lescai, Francesco, et al.
Publicado: (2012)

Identification and validation of loss of function variants in clinical contexts
por: Lescai, Francesco, et al.
Publicado: (2014)

Novel missense variants in the RNF213 gene from a European family with Moyamoya disease
por: Gagunashvili, Andrey N., et al.
Publicado: (2019)

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm
por: Onoufriadis, Alexandros, et al.
Publicado: (2014)

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children
por: Mestek-Boukhibar, Lamia, et al.
Publicado: (2018)

Mutation of SALL2 causes recessive ocular coloboma in humans and mice
por: Kelberman, Daniel, et al.
Publicado: (2014)

Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis–temporal lobe epilepsy
por: Striano, Pasquale, et al.
Publicado: (2018)

ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency
por: McGlacken-Byrne, Sinéad M, et al.
Publicado: (2021)

Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity
por: Clark, Jason A, et al.
Publicado: (2009)

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome
por: Mahmood, Fahad, et al.
Publicado: (2013)

COLEC10 is mutated in 3MC patients and regulates early craniofacial development
por: Munye, Mustafa M., et al.
Publicado: (2017)

Whole‐Exome Sequencing Study of Extreme Phenotypes of NAFLD
por: Kleinstein, Sarah E., et al.
Publicado: (2018)

Managing Bardet–Biedl Syndrome—Now and in the Future
por: Forsythe, Elizabeth, et al.
Publicado: (2018)

EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10
por: Abdelhadi, Ola, et al.
Publicado: (2016)

Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing
por: Coromilas, Alexandra, et al.
Publicado: (2015)

Whole exome sequencing of extreme age-related macular degeneration phenotypes
por: Sardell, Rebecca J., et al.
Publicado: (2016)

Whole Exome Sequencing in Patients with Phenotypically Associated Familial Intracranial Aneurysm
por: Song, Yunsun, et al.
Publicado: (2022)

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome
por: Abdelhadi, Ola, et al.
Publicado: (2016)

OVAS: an open-source variant analysis suite with inheritance modelling
por: Mozere, Monika, et al.
Publicado: (2018)

Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes
por: Castro-Sánchez, Sheila, et al.
Publicado: (2017)

Diagnostic value of exome and whole genome sequencing in craniosynostosis
por: Miller, Kerry A, et al.
Publicado: (2017)

High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA
por: Poulsen, Jesper Buchhave, et al.
Publicado: (2016)

Whole exome sequencing in the rat
por: Foley, Julie F., et al.
Publicado: (2018)

Epilepsy in kcnj10 Morphant Zebrafish Assessed with a Novel Method for Long-Term EEG Recordings
por: Zdebik, Anselm A., et al.
Publicado: (2013)

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay
por: Reid, Emma S., et al.
Publicado: (2017)

Disentangling the Phylogenetic and Ecological Components of Spider Phenotypic Variation
por: Gonçalves-Souza, Thiago, et al.
Publicado: (2014)

Role of Whole-exome Sequencing in Phenotype Classification and Clinical Treatment of Pediatric Restrictive Cardiomyopathy
por: Ding, Wen-Hong, et al.
Publicado: (2017)

The Whole Exome Sequencing Clarifies the Genotype- Phenotype Correlations in Patients with Early-Onset Dementia
por: Xu, Yangqi, et al.
Publicado: (2018)

Analysis of Genotype-Phenotype Correlations in Patients With Degenerative Dementia Through the Whole Exome Sequencing
por: Sun, Lin, et al.
Publicado: (2021)

Whole-exome sequencing of individuals from an isolated population implicates rare risk variants in bipolar disorder
por: Lescai, F, et al.
Publicado: (2017)

Whole Exome Sequencing in Atrial Fibrillation
por: Lubitz, Steven A., et al.
Publicado: (2016)

Whole-exome sequencing study of hypospadias
por: Chen, Zhongzhong, et al.
Publicado: (2023)

Whole-exome analysis in osteosarcoma to identify a personalized therapy
por: Chiappetta, Caterina, et al.
Publicado: (2017)

Correction: Disentangling the Phylogenetic and Ecological Components of Spider Phenotypic Variation
Publicado: (2014)

Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype
por: Lucariello, Mario, et al.
Publicado: (2016)

The Added Value of Whole-Exome Sequencing for Anomalous Fetuses With Detailed Prenatal Ultrasound and Postnatal Phenotype
por: He, Miao, et al.
Publicado: (2021)

Deep phenotyping and whole‐exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders
por: Wang, Qingqing, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_cd9e9m3ammr1dh1mggua7ieu33