Search Results - "Weissensteiner, Hansi"

HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing by Weissensteiner, Hansi, Pacher, Dominic, Kloss-Brandstätter, Anita, Forer, Lukas, Specht, Günther, Bandelt, Hans-Jürgen, Kronenberg, Florian, Salas, Antonio, Schönherr, Sebastian

“…Mitochondrial DNA (mtDNA) profiles can be classified into phylogenetic clusters (haplogroups), which is of great relevance for evolutionary, forensic and…”
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OXPHOS remodeling in high-grade prostate cancer involves mtDNA mutations and increased succinate oxidation by Schöpf, Bernd, Weissensteiner, Hansi, Schäfer, Georg, Fazzini, Federica, Charoentong, Pornpimol, Naschberger, Andreas, Rupp, Bernhard, Fendt, Liane, Bukur, Valesca, Giese, Irina, Sorn, Patrick, Sant’Anna-Silva, Ana Carolina, Iglesias-Gonzalez, Javier, Sahin, Ugur, Kronenberg, Florian, Gnaiger, Erich, Klocker, Helmut

“…Rewiring of energy metabolism and adaptation of mitochondria are considered to impact on prostate cancer development and progression. Here, we report on…”
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HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups by Kloss-Brandstätter, Anita, Pacher, Dominic, Schönherr, Sebastian, Weissensteiner, Hansi, Binna, Robert, Specht, Günther, Kronenberg, Florian

“…An ongoing source of controversy in mitochondrial DNA (mtDNA) research is based on the detection of numerous errors in mtDNA profiles that led to erroneous…”
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An in-depth analysis of the mitochondrial phylogenetic landscape of Cambodia by Kloss-Brandstätter, Anita, Summerer, Monika, Horst, David, Horst, Basil, Streiter, Gertraud, Raschenberger, Julia, Kronenberg, Florian, Sanguansermsri, Torpong, Horst, Jürgen, Weissensteiner, Hansi

“…Cambodia harbours a variety of human aboriginal populations that have scarcely been studied in terms of genetic diversity of entire mitochondrial genomes. Here…”
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Resolving intra-repeat variation in medically relevant VNTRs from short-read sequencing data using the cardiovascular risk gene LPA as a model by Di Maio, Silvia, Zöscher, Peter, Weissensteiner, Hansi, Forer, Lukas, Schachtl-Riess, Johanna F, Amstler, Stephan, Streiter, Gertraud, Pfurtscheller, Cathrin, Paulweber, Bernhard, Kronenberg, Florian, Coassin, Stefan, Schönherr, Sebastian

“…Variable number tandem repeats (VNTRs) are highly polymorphic DNA regions harboring many potentially disease-causing variants. However, VNTRs often appear…”
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A comprehensive map of single-base polymorphisms in the hypervariable LPA kringle IV type 2 copy number variation region[S] by Coassin, Stefan, Schönherr, Sebastian, Weissensteiner, Hansi, Erhart, Gertraud, Forer, Lukas, Losso, Jamie Lee, Lamina, Claudia, Haun, Margot, Utermann, Gerd, Paulweber, Bernhard, Specht, Günther, Kronenberg, Florian

“…Lipoprotein (a) [Lp(a)] concentrations are among the strongest genetic risk factors for cardiovascular disease and present pronounced interethnic and…”
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Benchmarking Low-Frequency Variant Calling With Long-Read Data on Mitochondrial DNA by Lüth, Theresa, Schaake, Susen, Grünewald, Anne, May, Patrick, Trinh, Joanne, Weissensteiner, Hansi

“…Sequencing quality has improved over the last decade for long-reads, allowing for more accurate detection of somatic low-frequency variants. In this study, we…”
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The kringle IV type 2 domain variant 4925G>A causes the elusive association signal of the LPA pentanucleotide repeat by Grüneis, Rebecca, Weissensteiner, Hansi, Lamina, Claudia, Schönherr, Sebastian, Forer, Lukas, Di Maio, Silvia, Streiter, Gertraud, Peters, Annette, Gieger, Christian, Kronenberg, Florian, Coassin, Stefan

“…Lipoprotein(a) [Lp(a)] concentrations are regulated by the LPA gene mainly via the large kringle IV-type 2 (KIV-2) copy number variation and multiple causal…”
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Systemic Evidence for Mitochondrial Dysfunction in Age-Related Macular Degeneration as Revealed by mtDNA Copy Number Measurements in Peripheral Blood by Koller, Adriana, Lamina, Claudia, Brandl, Caroline, Zimmermann, Martina E., Stark, Klaus J., Weissensteiner, Hansi, Würzner, Reinhard, Heid, Iris M., Kronenberg, Florian

“…Mitochondrial dysfunction is a common occurrence in the aging process and is observed in diseases such as age-related macular degeneration (AMD). Increased…”
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Large-scale mitochondrial DNA analysis in Southeast Asia reveals evolutionary effects of cultural isolation in the multi-ethnic population of Myanmar by Summerer, Monika, Horst, Jürgen, Erhart, Gertraud, Weißensteiner, Hansi, Schönherr, Sebastian, Pacher, Dominic, Forer, Lukas, Horst, David, Manhart, Angelika, Horst, Basil, Sanguansermsri, Torpong, Kloss-Brandstätter, Anita

“…Myanmar is the largest country in mainland Southeast Asia with a population of 55 million people subdivided into more than 100 ethnic groups. Ruled by changing…”
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Cloudgene: a graphical execution platform for MapReduce programs on private and public clouds by Schönherr, Sebastian, Forer, Lukas, Weißensteiner, Hansi, Kronenberg, Florian, Specht, Günther, Kloss-Brandstätter, Anita

“…The MapReduce framework enables a scalable processing and analyzing of large datasets by distributing the computational load on connected computer nodes,…”
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Correction: Apolipoprotein A-IV concentrations and cancer in a large cohort of chronic kidney disease patients: results from the GCKD study by Kollerits, Barbara, Gruber, Simon, Steinbrenner, Inga, Schwaiger, Johannes P, Weissensteiner, Hansi, Schönherr, Sebastian, Forer, Lukas, Kotsis, Fruzsina, Schultheiss, Ulla T, Meiselbach, Heike, Wanner, Christoph, Eckardt, Kai-Uwe, Kronenberg, Florian

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Nuclear and mitochondrial genetic variants associated with mitochondrial DNA copy number by Koller, Adriana, Filosi, Michele, Weissensteiner, Hansi, Fazzini, Federica, Gorski, Mathias, Pattaro, Cristian, Schönherr, Sebastian, Forer, Lukas, Herold, Janina M., Stark, Klaus J., Döttelmayer, Patricia, Hicks, Andrew A., Pramstaller, Peter P., Würzner, Reinhard, Eckardt, Kai-Uwe, Heid, Iris M., Fuchsberger, Christian, Lamina, Claudia, Kronenberg, Florian

“…Mitochondrial DNA copy number (mtDNA-CN) is a biomarker for mitochondrial dysfunction associated with several diseases. Previous genome-wide association…”
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Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR by Amstler, Stephan, Streiter, Gertraud, Pfurtscheller, Cathrin, Forer, Lukas, Di Maio, Silvia, Weissensteiner, Hansi, Paulweber, Bernhard, Schönherr, Sebastian, Kronenberg, Florian, Coassin, Stefan

“…Repetitive genome regions, such as variable number of tandem repeats (VNTR) or short tandem repeats (STR), are major constituents of the uncharted dark genome…”
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Analyzing Low-Level mtDNA Heteroplasmy-Pitfalls and Challenges from Bench to Benchmarking by Fazzini, Federica, Fendt, Liane, Schönherr, Sebastian, Forer, Lukas, Schöpf, Bernd, Streiter, Gertraud, Losso, Jamie Lee, Kloss-Brandstätter, Anita, Kronenberg, Florian, Weissensteiner, Hansi

“…Massive parallel sequencing technologies are promising a highly sensitive detection of low-level mutations, especially in mitochondrial DNA (mtDNA) studies…”
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From Forensics to Clinical Research: Expanding the Variant Calling Pipeline for the Precision ID mtDNA Whole Genome Panel by Cortes-Figueiredo, Filipe, Carvalho, Filipa S, Fonseca, Ana Catarina, Paul, Friedemann, Ferro, José M, Schönherr, Sebastian, Weissensteiner, Hansi, Morais, Vanessa A

“…Despite a multitude of methods for the sample preparation, sequencing, and data analysis of mitochondrial DNA (mtDNA), the demand for innovation remains,…”
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mtDNA-Server: next-generation sequencing data analysis of human mitochondrial DNA in the cloud by Weissensteiner, Hansi, Forer, Lukas, Fuchsberger, Christian, Schöpf, Bernd, Kloss-Brandstätter, Anita, Specht, Günther, Kronenberg, Florian, Schönherr, Sebastian

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Validation of Next-Generation Sequencing of Entire Mitochondrial Genomes and the Diversity of Mitochondrial DNA Mutations in Oral Squamous Cell Carcinoma by Kloss-Brandstätter, Anita, Weissensteiner, Hansi, Erhart, Gertraud, Schäfer, Georg, Forer, Lukas, Schönherr, Sebastian, Pacher, Dominic, Seifarth, Christof, Stöckl, Andrea, Fendt, Liane, Sottsas, Irma, Klocker, Helmut, Huck, Christian W, Rasse, Michael, Kronenberg, Florian, Kloss, Frank R

“…Oral squamous cell carcinoma (OSCC) is mainly caused by smoking and alcohol abuse and shows a five-year survival rate of ~50%. We aimed to explore the…”
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Association of mineral and bone biomarkers with adverse cardiovascular outcomes and mortality in the German Chronic Kidney Disease (GCKD) cohort by Reimer, Katharina Charlotte, Nadal, Jennifer, Meiselbach, Heike, Schmid, Matthias, Schultheiss, Ulla T, Kotsis, Fruzsina, Stockmann, Helena, Friedrich, Nele, Nauck, Matthias, Krane, Vera, Eckardt, Kai-Uwe, Schneider, Markus P, Kramann, Rafael, Floege, Jürgen, Saritas, Turgay, Schiffer, Mario, Prokosch, Hans-Ulrich, Bärthlein, Barbara, Beck, Andreas, Reis, André, Ekici, Arif B, Becker, Susanne, Alberth-Schmidt, Ulrike, Weigel, Anke, Marschall, Sabine, Schefler, Eugenia, Walz, Gerd, Köttgen, Anna, Meder, Simone, Mitsch, Erna, Reinhard, Ursula, Schaeffner, Elke, Baid-Agrawal, Seema, Theisen, Kerstin, Schmidt-Ott, Kai, Zeier, Martin, Sommerer, Claudia, Aykac, Mehtap, Wolf, Gunter, Paul, Rainer, Börner-Klein, Antje, Bauer, Britta, Raschenberger, Julia, Kollerits, Barbara, er, Lukas, Schönherr, Sebastian, Weissensteiner, Hansi, Oefner, Peter, Gronwald, Wolfram

“…Mineral and bone disorder (MBD) in chronic kidney disease (CKD) is tightly linked to cardiovascular disease (CVD). In this study, we aimed to compare the…”
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eCOMPAGT integrates mtDNA: import, validation and export of mitochondrial DNA profiles for population genetics, tumour dynamics and genotype-phenotype association studies by Weissensteiner, Hansi, Schönherr, Sebastian, Specht, Günther, Kronenberg, Florian, Brandstätter, Anita

“…Mitochondrial DNA (mtDNA) is widely being used for population genetics, forensic DNA fingerprinting and clinical disease association studies. The recent past…”
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