Cargando…

panelcn.MOPS: Copy‐number detection in targeted NGS panel data for clinical diagnostics

Targeted next‐generation‐sequencing (NGS) panels have largely replaced Sanger sequencing in clinical diagnostics. They allow for the detection of copy‐number variations (CNVs) in addition to single‐nucleotide variants and small insertions/deletions. However, existing computational CNV detection meth...

Descripción completa

Detalles Bibliográficos
Autores principales:	Povysil, Gundula, Tzika, Antigoni, Vogt, Julia, Haunschmid, Verena, Messiaen, Ludwine, Zschocke, Johannes, Klambauer, Günter, Hochreiter, Sepp, Wimmer, Katharina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Methods
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518446/ https://www.ncbi.nlm.nih.gov/pubmed/28449315 http://dx.doi.org/10.1002/humu.23237

Ejemplares similares

cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate
por: Klambauer, Günter, et al.
Publicado: (2012)

IBD Sharing between Africans, Neandertals, and Denisovans
por: Povysil, Gundula, et al.
Publicado: (2017)

Rectified factor networks for biclustering of omics data
por: Clevert, Djork-Arné, et al.
Publicado: (2017)

DEXUS: identifying differential expression in RNA-Seq studies with unknown conditions
por: Klambauer, Günter, et al.
Publicado: (2013)

CLOOME: contrastive learning unlocks bioimaging databases for queries with chemical structures
por: Sanchez-Fernandez, Ana, et al.
Publicado: (2023)

cn.FARMS: a latent variable model to detect copy number variations in microarray data with a low false discovery rate
por: Clevert, Djork-Arné, et al.
Publicado: (2011)

The Promise of AI for DILI Prediction
por: Vall, Andreu, et al.
Publicado: (2021)

Domain Shifts in Machine Learning Based Covid-19 Diagnosis From Blood Tests
por: Roland, Theresa, et al.
Publicado: (2022)

DeepSynergy: predicting anti-cancer drug synergy with Deep Learning
por: Preuer, Kristina, et al.
Publicado: (2018)

The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion
por: Wimmer, Katharina, et al.
Publicado: (2011)

AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides
por: Wimmer, Katharina, et al.
Publicado: (2020)

Mopping up chemokines
por: Wells, William A.
Publicado: (2006)

Large-scale comparison of machine learning methods for drug target prediction on ChEMBL
por: Mayr, Andreas, et al.
Publicado: (2018)

Improved Multiplex Ligation-Dependent Probe Amplification Analysis Identifies a Deleterious PMS2 Allele Generated by Recombination with Crossover Between PMS2 and PMS2CL
por: Wernstedt, Annekatrin, et al.
Publicado: (2012)

Improving Few- and Zero-Shot Reaction Template Prediction Using Modern Hopfield Networks
por: Seidl, Philipp, et al.
Publicado: (2022)

Metrics of perineal support (MOPS) study
por: Kalis, Vladimir, et al.
Publicado: (2020)

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints
por: Vogt, Julia, et al.
Publicado: (2014)

Copy number variants landscape of multiple cancers and clinical applications based on NGS gene panel
por: Yan, Kangpeng, et al.
Publicado: (2023)

Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1
por: Perez-Valencia, Juan A., et al.
Publicado: (2020)

Prezydent uda się na szczyt MOP
Publicado: (2009)

Bombali Virus in Mops condylurus Bats, Guinea
por: Karan, Lyudmila S., et al.
Publicado: (2019)

Bombali Virus in Mops condylurus Bat, Kenya
por: Forbes, Kristian M., et al.
Publicado: (2019)

Mopping up crystals to keep the blood flowing
por: Hagemeyer, Christoph E.
Publicado: (2021)

Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II
por: Koczkowska, Magdalena, et al.
Publicado: (2023)

Effects of mop handle height on shoulder muscle activity and perceived exertion during floor mopping using a figure eight method
por: WALLIUS, Mari-Anne, et al.
Publicado: (2015)

Bombali Ebolavirus in Mops condylurus Bats (Molossidae), Mozambique
por: Lebarbenchon, Camille, et al.
Publicado: (2022)

Recommendations for the clinical interpretation and reporting of copy number gains using gene panel NGS analysis in routine diagnostics
por: Eijkelenboom, Astrid, et al.
Publicado: (2019)

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN
por: Fowler, Anna, et al.
Publicado: (2016)

The proteasome complex and the maintenance of pluripotency: sustain the fate by mopping up?
por: Schröter, Friederike, et al.
Publicado: (2014)

Mopping up the Oil, Metal, and Fluoride Ions from Water
por: Das, Tanmay, et al.
Publicado: (2017)

Separation of Stabilized MOPS Gold Nanostars by Density Gradient Centrifugation
por: Chandra, Kavita, et al.
Publicado: (2017)

Theoretical and Experimental Design of Heavy Metal-Mopping Magnetic Nanoparticles
por: Roma, Elia, et al.
Publicado: (2021)

A biocompatible PAA-Cu-MOP hydrogel for wound healing
por: Chen, Linlin, et al.
Publicado: (2020)

Genomic characterization of Alphacoronavirus from Mops condylurus bats in Nigeria
por: George, Uwem, et al.
Publicado: (2023)

Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design
por: Aguilera-Diaz, Almudena, et al.
Publicado: (2020)

Invited talk: Deep Learning Meets Physics
por: Hochreiter, Sepp
Publicado: (2018)

HapFABIA: Identification of very short segments of identity by descent characterized by rare variants in large sequencing data
por: Hochreiter, Sepp
Publicado: (2013)

Complex splicing pattern generates great diversity in human NF1 transcripts
por: Vandenbroucke, Ina, et al.
Publicado: (2002)

High-scale analysis of pathogenicity determinants of Potato mop-top virus
por: Zamyatnin, Andrey, et al.
Publicado: (2005)

Self-Assembled Metal-Organic Polyhedra (MOPs): Opportunities in Biomedical Applications
por: Alkordi, Mohamed H
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_2qnksr8p923siminifcg6pap9h