Cargando…

Identification of copy number variants from exome sequence data

BACKGROUND: With advances in next generation sequencing technologies and genomic capture techniques, exome sequencing has become a cost-effective approach for mutation detection in genetic diseases. However, computational prediction of copy number variants (CNVs) from exome sequence data is a challe...

Descripción completa

Detalles Bibliográficos
Autores principales:	Samarakoon, Pubudu Saneth, Sorte, Hanne Sørmo, Kristiansen, Bjørn Evert, Skodje, Tove, Sheng, Ying, Tjønnfjord, Geir E, Stadheim, Barbro, Stray-Pedersen, Asbjørg, Rødningen, Olaug Kristin, Lyle, Robert
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4132917/ https://www.ncbi.nlm.nih.gov/pubmed/25102989 http://dx.doi.org/10.1186/1471-2164-15-661

Ejemplares similares

cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data
por: Samarakoon, Pubudu Saneth, et al.
Publicado: (2016)

A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T‐cell dysfunction
por: Sorte, Hanne S., et al.
Publicado: (2016)

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
por: Barøy, Tuva, et al.
Publicado: (2013)

Coping, quality of life, and hope in adults with primary antibody deficiencies
por: Sigstad, Hanne Marie Høybråten, et al.
Publicado: (2005)

Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report
por: Schinagl, Carina, et al.
Publicado: (2017)

Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas
por: Fevang, Børre, et al.
Publicado: (2018)

“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
por: Jahic, Amir, et al.
Publicado: (2019)

First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis
por: Pedroza, Luis Alberto, et al.
Publicado: (2017)

Inferring copy number and genotype in tumour exome data
por: Amarasinghe, Kaushalya C, et al.
Publicado: (2014)

Assessing the reproducibility of exome copy number variations predictions
por: Hong, Celine S., et al.
Publicado: (2016)

A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1
por: Johnsrud, Irene, et al.
Publicado: (2015)

Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1
por: Johnsrud, Irene, et al.
Publicado: (2015)

Successful Control of Hepatitis B Virus Reactivation following Restart of Ibrutinib in Chronic Lymphocytic Leukaemia
por: Tjønnfjord, Sara Kristina Viberg, et al.
Publicado: (2021)

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
por: Gambin, Tomasz, et al.
Publicado: (2017)

Estimation of Copy Number Alterations from Exome Sequencing Data
por: Valdés-Mas, Rafael, et al.
Publicado: (2012)

A Nationwide Study of GATA2 Deficiency in Norway—the Majority of Patients Have Undergone Allo-HSCT
por: Jørgensen, Silje F., et al.
Publicado: (2021)

CopyDetective: Detection threshold–aware copy number variant calling in whole-exome sequencing data
por: Sandmann, Sarah, et al.
Publicado: (2020)

Assessing the Power of Exome Chips
por: Page, Christian Magnus, et al.
Publicado: (2015)

Copy number variation detection and genotyping from exome sequence data
por: Krumm, Niklas, et al.
Publicado: (2012)

VEGAWES: variational segmentation on whole exome sequencing for copy number detection
por: Anjum, Samreen, et al.
Publicado: (2015)

Increasing the diagnostic yield of exome sequencing by copy number variant analysis
por: Marchuk, Daniel S., et al.
Publicado: (2018)

Determining drug dose in the era of targeted therapies: playing it (un)safe?
por: Skånland, Sigrid S., et al.
Publicado: (2022)

Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency
por: Blom, Maartje, et al.
Publicado: (2022)

EXCAVATOR: detecting copy number variants from whole-exome sequencing data
por: Magi, Alberto, et al.
Publicado: (2013)

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing
por: de Ligt, Joep, et al.
Publicado: (2014)

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia
por: Marshall, Christian R., et al.
Publicado: (2015)

Sacral agenesis: a pilot whole exome sequencing and copy number study
por: Porsch, Robert M., et al.
Publicado: (2016)

Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson’s Disease
por: Yemni, Eman Al, et al.
Publicado: (2019)

Exome and copy number variation analyses of Mayer–Rokitansky–Küster– Hauser syndrome
por: Takahashi, Kazumi, et al.
Publicado: (2018)

Factor eight inhibitor bypass activity (FEIBA) in the management of bleeds in hemophilia patients with high-titer inhibitors
por: Tjønnfjord, Geir E, et al.
Publicado: (2007)

Primary chronic cold agglutinin disease: An update on pathogenesis, clinical features and therapy
por: Berentsen, Sigbjørn, et al.
Publicado: (2007)

Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype
por: Skauli, Nadia, et al.
Publicado: (2016)

Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation
por: Skogseid, Inger Marie, et al.
Publicado: (2018)

CoNVEX: copy number variation estimation in exome sequencing data using HMM
por: Amarasinghe, Kaushalya C, et al.
Publicado: (2013)

CANOES: detecting rare copy number variants from whole exome sequencing data
por: Backenroth, Daniel, et al.
Publicado: (2014)

CODEX: a normalization and copy number variation detection method for whole exome sequencing
por: Jiang, Yuchao, et al.
Publicado: (2015)

Allele-specific copy-number discovery from whole-genome and whole-exome sequencing
por: Wang, WeiBo, et al.
Publicado: (2015)

Copy number alterations detected by whole-exome and whole-genome sequencing of esophageal adenocarcinoma
por: Wang, Xiaoyu, et al.
Publicado: (2015)

Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy
por: Allen, Andrew S., et al.
Publicado: (2015)

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes
por: Ruderfer, Douglas M., et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_6g8im6eeuukfhulhc8o6khlv4a