Cargando…

SNPflow: A Lightweight Application for the Processing, Storing and Automatic Quality Checking of Genotyping Assays

Single nucleotide polymorphisms (SNPs) play a prominent role in modern genetics. Current genotyping technologies such as Sequenom iPLEX, ABI TaqMan and KBioscience KASPar made the genotyping of huge SNP sets in large populations straightforward and allow the generation of hundreds of thousands of ge...

Descripción completa

Detalles Bibliográficos
Autores principales:	Weissensteiner, Hansi, Haun, Margot, Schönherr, Sebastian, Neuner, Mathias, Forer, Lukas, Specht, Günther, Kloss-Brandstätter, Anita, Kronenberg, Florian, Coassin, Stefan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2013
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3602247/ https://www.ncbi.nlm.nih.gov/pubmed/23527209 http://dx.doi.org/10.1371/journal.pone.0059508

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)

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

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

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)

CONAN: copy number variation analysis software for genome-wide association studies
por: Forer, Lukas, et al.
Publicado: (2010)

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)

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

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

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)

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)

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)

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

A Systematic Evaluation of Short Tandem Repeats in Lipid Candidate Genes: Riding on the SNP-Wave
por: Lamina, Claudia, et al.
Publicado: (2014)

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

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

Lipoprotein(a) and SARS-CoV-2 infections: Risk for ischemic heart disease and thromboembolic events
por: Di Maio, S., et al.
Publicado: (2022)

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)

Investigation and Functional Characterization of Rare Genetic Variants in the Adipose Triglyceride Lipase in a Large Healthy Working Population
por: Coassin, Stefan, et al.
Publicado: (2010)

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

An optimized procedure for the design and evaluation of Ecotilling assays
por: Coassin, Stefan, et al.
Publicado: (2008)

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)

Candidate Gene Sequencing of SLC11A2 and TMPRSS6 in a Family with Severe Anaemia: Common SNPs, Rare Haplotypes, No Causative Mutation
por: Kloss-Brandstätter, Anita, et al.
Publicado: (2012)

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)

Influence of DNA extraction methods on relative telomere length measurements and its impact on epidemiological studies
por: Raschenberger, Julia, et al.
Publicado: (2016)

Polymorphisms in the Gene Regions of the Adaptor Complex LAMTOR2/LAMTOR3 and Their Association with Breast Cancer Risk
por: De Araujo, Mariana E., et al.
Publicado: (2013)

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)

Lightweight similarity checking for English literatures in mobile edge computing
por: Liu, Xiaomei, et al.
Publicado: (2023)

Automatic Injection Quality Checks for the LHC
por: Drosdal, L N, et al.
Publicado: (2011)

From Forensics to Clinical Research: Expanding the Variant Calling Pipeline for the Precision ID mtDNA Whole Genome Panel
por: Cortes-Figueiredo, Filipe, et al.
Publicado: (2021)

Comparison of allogeneic and autogenous bone grafts for augmentation of alveolar ridge defects—A 12‐month retrospective radiographic evaluation
por: Kloss, Frank R., et al.
Publicado: (2018)

Health Checks for Care
por: West, Margot
Publicado: (2021)

First Clinical Case Report of a Xenograft–Allograft Combination for Alveolar Ridge Augmentation Using a Bovine Bone Substitute Material with Hyaluronate (Cerabone(®) Plus) Combined with Allogeneic Bone Granules (Maxgraft(®))
por: Kloss, Frank R., et al.
Publicado: (2023)

Risk Factors for Complications Following Staged Alveolar Ridge Augmentation and Dental Implantation: A Retrospective Evaluation of 151 Cases with Allogeneic and 70 Cases with Autogenous Bone Blocks
por: Kloss, Frank R., et al.
Publicado: (2022)

Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk
por: Coassin, Stefan, et al.
Publicado: (2022)

Induction of maturation-promoting factor during Xenopus oocyte maturation uncouples Ca(2+) store depletion from store-operated Ca(2+) entry
por: Machaca, Khaled, et al.
Publicado: (2002)

Lipoprotein(a) beyond the kringle IV repeat polymorphism: The complexity of genetic variation in the LPA gene
por: Coassin, Stefan, et al.
Publicado: (2022)

Simulation Data Quality -- Automatic checks on monitoring histograms
por: Sturm, Marie Luise
Publicado: (2023)

A genome-wide analysis of DNA methylation identifies a novel association signal for Lp(a) concentrations in the LPA promoter
por: Coassin, Stefan, et al.
Publicado: (2020)

Customized allogeneic bone grafts for maxillary horizontal augmentation: A 5‐year follow‐up radiographic and histologic evaluation
por: Kloss, Frank Rudolf, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_l9nu1b604dd82p7ki5g8n3h4lh