Cargando…

CONAN: copy number variation analysis software for genome-wide association studies

BACKGROUND: Genome-wide association studies (GWAS) based on single nucleotide polymorphisms (SNPs) revolutionized our perception of the genetic regulation of complex traits and diseases. Copy number variations (CNVs) promise to shed additional light on the genetic basis of monogenic as well as compl...

Descripción completa

Detalles Bibliográficos
Autores principales:	Forer, Lukas, Schönherr, Sebastian, Weissensteiner, Hansi, Haider, Florian, Kluckner, Thomas, Gieger, Christian, Wichmann, Heinz-Erich, Specht, Günther, Kronenberg, Florian, Kloss-Brandstätter, Anita
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2010
Materias:	Software
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2894823/ https://www.ncbi.nlm.nih.gov/pubmed/20546565 http://dx.doi.org/10.1186/1471-2105-11-318

Ejemplares similares

Cloudgene: A graphical execution platform for MapReduce programs on private and public clouds
por: Schönherr, Sebastian, et al.
Publicado: (2012)

mtDNA-Server: next-generation sequencing data analysis of human mitochondrial DNA in the cloud
por: Weissensteiner, Hansi, et al.
Publicado: (2016)

SNPflow: A Lightweight Application for the Processing, Storing and Automatic Quality Checking of Genotyping Assays
por: Weissensteiner, Hansi, et al.
Publicado: (2013)

HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing
por: Weissensteiner, Hansi, et al.
Publicado: (2016)

eCOMPAGT integrates mtDNA: import, validation and export of mitochondrial DNA profiles for population genetics, tumour dynamics and genotype-phenotype association studies
por: Weißensteiner, Hansi, et al.
Publicado: (2010)

eCOMPAGT – efficient Combination and Management of Phenotypes and Genotypes for Genetic Epidemiology
por: Schönherr, Sebastian, et al.
Publicado: (2009)

Haplogrep 3 - an interactive haplogroup classification and analysis platform
por: Schönherr, Sebastian, et al.
Publicado: (2023)

A comprehensive map of single-base polymorphisms in the hypervariable LPA kringle IV type 2 copy number variation region
por: Coassin, Stefan, et al.
Publicado: (2019)

Analyzing Low-Level mtDNA Heteroplasmy—Pitfalls and Challenges from Bench to Benchmarking
por: Fazzini, Federica, et al.
Publicado: (2021)

ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data
por: Gudkov, Mikhail, et al.
Publicado: (2023)

The kringle IV type 2 domain variant 4925G>A causes the elusive association signal of the LPA pentanucleotide repeat
por: Grüneis, Rebecca, et al.
Publicado: (2022)

Validation of Next-Generation Sequencing of Entire Mitochondrial Genomes and the Diversity of Mitochondrial DNA Mutations in Oral Squamous Cell Carcinoma
por: Kloss-Brandstätter, Anita, et al.
Publicado: (2015)

Large-scale mitochondrial DNA analysis in Southeast Asia reveals evolutionary effects of cultural isolation in the multi-ethnic population of Myanmar
por: Summerer, Monika, et al.
Publicado: (2014)

Contamination detection in sequencing studies using the mitochondrial phylogeny
por: Weissensteiner, Hansi, et al.
Publicado: (2021)

An in-depth analysis of the mitochondrial phylogenetic landscape of Cambodia
por: Kloss-Brandstätter, Anita, et al.
Publicado: (2021)

Conan Doyle
por: MacNalty, Arthur S.
Publicado: (1935)

A polygenic and family risk score are both independently associated with risk of type 2 diabetes in a population-based study
por: Duschek, Elena, et al.
Publicado: (2023)

Association tests and software for copy number variant data
por: Plagnol, Vincent
Publicado: (2009)

Systemic Evidence for Mitochondrial Dysfunction in Age-Related Macular Degeneration as Revealed by mtDNA Copy Number Measurements in Peripheral Blood
por: Koller, Adriana, et al.
Publicado: (2023)

Sherlock Holmes and Conan Doyle
Publicado: (1904)

Profiling of Mitochondrial DNA Heteroplasmy in a Prospective Oral Squamous Cell Carcinoma Study
por: Fendt, Liane, et al.
Publicado: (2020)

Apolipoprotein A‐IV concentrations and clinical outcomes in a large chronic kidney disease cohort: Results from the GCKD study
por: Schwaiger, Johannes P., et al.
Publicado: (2022)

Partitioning of copy-number genotypes in pedigrees
por: Perreault, Louis-Philippe Lemieux, et al.
Publicado: (2010)

A survey of analysis software for array-comparative genomic hybridisation studies to detect copy number variation
por: Karimpour-Fard, Anis, et al.
Publicado: (2010)

A novel but frequent variant in LPA KIV-2 is associated with a pronounced Lp(a) and cardiovascular risk reduction
por: Coassin, Stefan, et al.
Publicado: (2017)

Association of mitochondrial DNA copy number with metabolic syndrome and type 2 diabetes in 14 176 individuals
por: Fazzini, F., et al.
Publicado: (2021)

Lipoprotein(a) and SARS‐CoV‐2 infections: Susceptibility to infections, ischemic heart disease and thromboembolic events
por: Di Maio, Silvia, et al.
Publicado: (2021)

SCNVSim: somatic copy number variation and structure variation simulator
por: Qin, Maochun, et al.
Publicado: (2015)

Segmentum: a tool for copy number analysis of cancer genomes
por: Afyounian, Ebrahim, et al.
Publicado: (2017)

Neuro syphilis: Portrayals by Sir Arthur Conan Doyle
por: Somasundaram, O.
Publicado: (2009)

The effect of LPA Thr3888Pro on lipoprotein(a) and coronary artery disease is modified by the LPA KIV-2 variant 4925G>A
por: Grüneis, Rebecca, et al.
Publicado: (2022)

CGHpower: exploring sample size calculations for chromosomal copy number experiments
por: Scheinin, Ilari, et al.
Publicado: (2010)

Copynumber: Efficient algorithms for single- and multi-track copy number segmentation
por: Nilsen, Gro, et al.
Publicado: (2012)

Evaluation of copy number variation detection for a SNP array platform
por: Zhang, Xin, et al.
Publicado: (2014)

X-CNV: genome-wide prediction of the pathogenicity of copy number variations
por: Zhang, Li, et al.
Publicado: (2021)

Completing a genomic characterisation of microscopic tumour samples with copy number
por: Nulsen, Joel, et al.
Publicado: (2023)

cnvCurator: an interactive visualization and editing tool for somatic copy number variations
por: Ma, Lingnan, et al.
Publicado: (2015)

iGC—an integrated analysis package of gene expression and copy number alteration
por: Lai, Yi-Pin, et al.
Publicado: (2017)

CRISPR library designer (CLD): software for multispecies design of single guide RNA libraries
por: Heigwer, Florian, et al.
Publicado: (2016)

Sir Arthur Conan Doyle: The Adventures of a Literary Ophthalmologist
por: Sen, Mrittika, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_51i8h8dfdifgr1almou2hbonpa