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1. Full Text Reference-based phasing using the Haplotype Reference Consortium panel
by Loh, Po-Ru and Danecek, Petr and Palamara, Pier Francesco and Fuchsberger, Christian and Reshef, Yakir A and Finucane, Hilary K and Schoenherr, Sebastian and Forer, Lukas and McCarthy, Shane and Abecasis, Goncalo R and Durbin, Richard and Price, Alkes L
Nature genetics, ISSN 1061-4036, 11/2016, Volume 48, Issue 11, pp. 1443 - 1448
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | Algorithms | Humans | Female | Genotype | Male | Reference Values | Cohort Studies | Genetic research | Identification and classification | Genetic screening | Innovations | Datasets | Studies | Consortia | Accuracy | Benchmarks | Genomes | Grants | Methods | Open source software | Index Medicus
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2. Full Text Next-generation genotype imputation service and methods
by Das, Sayantan and Forer, Lukas and Schönherr, Sebastian and Sidore, Carlo and Locke, Adam E and Kwong, Alan and Vrieze, Scott I and Chew, Emily Y and Levy, Shawn and McGue, Matt and Schlessinger, David and Stambolian, Dwight and Loh, Po-Ru and Iacono, William G and Swaroop, Anand and Scott, Laura J and Cucca, Francesco and Kronenberg, Florian and Boehnke, Michael and Abecasis, Gonçalo R and Fuchsberger, Christian
Nature genetics, ISSN 1061-4036, 10/2016, Volume 48, Issue 10, pp. 1284 - 1287
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | Genome-Wide Association Study | Algorithms | Computer Simulation | Humans | Genotype | Internet | Studies | Genotype & phenotype | Accuracy | Researchers | Computer simulation | Software | Genomes | Methods | Index Medicus
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3. Full Text Cloudgene: A graphical execution platform for MapReduce programs on private and public clouds
by Schönherr, Sebastian and Forer, Lukas and Weißensteiner, Hansi and Kronenberg, Florian and Specht, Günther and Kloss-Brandstätter, Anita
BMC bioinformatics, ISSN 1471-2105, 08/2012, Volume 13, Issue 1, pp. 200 - 200
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Biochemical Research Methods | Science & Technology | Mathematical & Computational Biology | Computational Biology - methods | Reproducibility of Results | Polymorphism, Single Nucleotide | Software | Genome | Computer Communication Networks | Sequence Analysis, DNA - methods | Computer science | International trade | Cloud computing | Usage | Genomics | Science | Genetic research | Computer programs | Computers | Houses | Clouds | software | Data processing | Genomes | Single-nucleotide polymorphism | Nodes | Computer applications | Computer graphics | Gene mapping | Bioinformatics | Genotypes | Index Medicus
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4. Full Text A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms
by Mack, Salome and Coassin, Stefan and Rueedi, Rico and Yousri, Noha A and Seppälä, Ilkka and Gieger, Christian and Schönherr, Sebastian and Forer, Lukas and Erhart, Gertraud and Marques-Vidal, Pedro and Ried, Janina S and Waeber, Gerard and Bergmann, Sven and Dähnhardt, Doreen and Stöckl, Andrea and Raitakari, Olli T and Kähönen, Mika and Peters, Annette and Meitinger, Thomas and Strauch, Konstantin and Kedenko, Ludmilla and Paulweber, Bernhard and Lehtimäki, Terho and Hunt, Steven C and Vollenweider, Peter and Lamina, Claudia and Kronenberg, Florian and KORA-Study Grp and KORA-Study Group
Journal of lipid research, ISSN 0022-2275, 2017, Volume 58, Issue 9, pp. 1834 - 1844
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Apolipoproteins A - metabolism | Animals | Apolipoproteins A - genetics | Protein Isoforms - metabolism | Humans | Polymorphism, Single Nucleotide | Sex Characteristics | Genome-Wide Association Study - methods | Lipoprotein(a) - genetics | Lipoprotein(a) - metabolism | Apolipoprotein E | TLR2 protein | Coronary artery | Isoforms | Alleles | Toll-like receptors | Cardiovascular disease | Genomes | Single-nucleotide polymorphism | Cardiovascular diseases | Heart diseases | Index Medicus | coronary artery disease | epidemiology | genetics
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5. Full Text HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing
by Weissensteiner, Hansi and Pacher, Dominic and Kloss-Brandstätter, Anita and Forer, Lukas and Specht, Günther and Bandelt, Hans-Jürgen and Kronenberg, Florian and Salas, Antonio and Schönherr, Sebastian
Nucleic acids research, ISSN 0305-1048, 07/2016, Volume 44, Issue 1, pp. W58 - W63
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Haplotypes | User-Computer Interface | Humans | DNA, Mitochondrial - classification | Phylogeny | Sequence Analysis, DNA | Biological Evolution | Genetic Variation | Sequence Alignment | Algorithms | DNA, Mitochondrial - genetics | Mitochondria - genetics | High-Throughput Nucleotide Sequencing | Internet | Quality Control | Index Medicus | Web Server issue
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6. Full Text A reference panel of 64,976 haplotypes for genotype imputation
by McCarthy, Shane and Das, Sayantan and Kretzschmar, Warren and Delaneau, Olivier and Wood, Anew R and Teumer, Alexander and Kang, Hyun Min and Fuchsberger, Christian and Danecek, Petr and Sharp, Kevin and Luo, Yang and Sidorel, Carlo and Kwong, Alan and Timpson, Nicholas and Koskinen, Seppo and Vrieze, Scott and Scott, Laura J and Zhang, He and Mahajan, Anubha and Veldink, Jan and Peters, Ulrike and Pato, Carlos and van Duijn, Cornelia M and Gillies, Christopher E and Gandin, Ilaria and Mezzavilla, Massimo and Gilly, Arthur and Cocca, Massimiliano and Traglia, Michela and Angius, Anea and Barrett, Jeffrey C and Boomsma, Dorrett and Branham, Kari and Breen, Gerome and Brummett, Chad M and Busonero, Fabio and Campbell, Harry and Chan, Anew and Che, Sai and Chew, Emily and Collins, Francis S and Corbin, Laura J and Smith, George Davey and Dedoussis, George and Dorr, Marcus and Farmaki, Aliki-Eleni and Ferrucci, Luigi and Forer, Lukas and Wijmenga, Cisca and Swertz, Morris A and Haplotype Reference Consortium and the Haplotype Reference Consortium
Nature genetics, ISSN 1061-4036, 10/2016, Volume 48, Issue 10, pp. 1279 - 1283
POPULATION | RARE VARIANTS | SEQUENCE | GENOME-WIDE ASSOCIATION | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Studies | Datasets | Haplotypes | Consortia | Accuracy | Genealogy | Researchers | Genomics | Collaboration | Genomes | Index Medicus | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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7. Full Text A novel but frequent variant in LPA KIV-2 is associated with a pronounced Lp(a) and cardiovascular risk reduction
by Coassin, Stefan and Erhart, Gertraud and Weissensteiner, Hansi and Eca Guimarães De Araújo, Mariana and Lamina, Claudia and Schönherr, Sebastian and Forer, Lukas and Haun, Margot and Losso, Jamie Lee and Köttgen, Anna and Schmidt, Konrad and Utermann, Gerd and Peters, Annette and Gieger, Christian and Strauch, Konstantin and Finkenstedt, Armin and Bale, Reto and Zoller, Heinz and Paulweber, Bernhard and Eckardt, Kai-Uwe and Hüttenhofer, Alexander and Huber, Lukas A and Kronenberg, Florian
European heart journal, ISSN 0195-668X, 06/2017, Volume 38, Issue 23, pp. 1823 - 1831
Lipoprotein(a) | Copy number variation | LPA | CVD risk | Kringle IV-type 2 | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Humans | Kringles - genetics | Middle Aged | Risk Factors | Linkage Disequilibrium - genetics | Genotype | Male | DNA Copy Number Variations - genetics | Cardiovascular Diseases - genetics | Phenotype | Protein Isoforms - metabolism | Polymorphism, Single Nucleotide - genetics | Adult | Female | Aged | Lipoprotein(a) - genetics | Lipoprotein(a) - metabolism | Protein Isoforms - genetics | Index Medicus | Editor's Choice | Fast Track Clinical Research
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8. Full Text Analyzing Low-Level mtDNA Heteroplasmy-Pitfalls and Challenges from Bench to Benchmarking
by Fazzini, Federica and Fendt, Liane and Schoenherr, Sebastian and Forer, Lukas and Schoepf, Bernd and Streiter, Gertraud and Losso, Jamie Lee and Kloss-Brandstaetter, Anita and Kronenberg, Florian and Weissensteiner, Hansi
International journal of molecular sciences, ISSN 1661-6596, 01/2021, Volume 22, Issue 2, p. 935
Biochemistry & Molecular Biology | Physical Sciences | Chemistry | Life Sciences & Biomedicine | Chemistry, Multidisciplinary | Science & Technology | Medical research | Enzymes | DNA polymerase | Standardization | Mitochondrial DNA | Gene frequency | Heteroplasmy | Aging | Genetics | Mutation | Deoxyribonucleic acid--DNA | DNA-directed DNA polymerase | DNA sequencing | Index Medicus | next generation sequencing (NGS) | heteroplasmy | variant callers | mitochondrial DNA (mtDNA)
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9. Full Text Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans
by Schlosser, Pascal and Li, Yong and Sekula, Peggy and Raffler, Johannes and Grundner-Culemann, Franziska and Pietzner, Maik and Cheng, Yurong and Wuttke, Matthias and Steinbrenner, Inga and Schultheiss, Ulla T and Kotsis, Fruzsina and Kacprowski, Tim and Forer, Lukas and Hausknecht, Birgit and Ekici, Arif B and Nauck, Matthias and Voelker, Uwe and Walz, Gerd and Oefner, Peter J and Kronenberg, Florian and Mohney, Robert P and Koettgen, Michael and Suhre, Karsten and Eckardt, Kai-Uwe and Kastenmueller, Gabi and Koettgen, Anna and GCKD Investigators
Nature genetics, ISSN 1061-4036, 02/2020, Volume 52, Issue 2, pp. 167 - 176
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cytochrome P-450 CYP2D6 - genetics | Inactivation, Metabolic | Acetyltransferases - metabolism | Genome-Wide Association Study | Alkaline Phosphatase - genetics | Biomarkers - urine | Humans | Alkaline Phosphatase - metabolism | Biotransformation - genetics | Kidney - cytology | Xenobiotics - pharmacokinetics | Acetyltransferases - genetics | Renal Insufficiency, Chronic - metabolism | Metoprolol - pharmacokinetics | Kidney - metabolism | Renal Insufficiency, Chronic - genetics | Polymorphism, Single Nucleotide | Urine - physiology | Quantitative Trait Loci | Xenobiotics - urine | Cohort Studies | Renal Insufficiency, Chronic - urine | Proteins | Quantitative genetics | Metabolites | Analysis | Genes | Genomics | Physiological aspects | Genetic research | Genomes | Gene expression | Amino acids | Mapping | Information systems | Biotransformation | Population | Protein transport | Urine | Enzymes | Excretion | Kidneys | Detoxification | Health risks | Metabolism | Loci | Substrates | Quantitative trait loci | Molecular modelling | Biobanks | Information processing | Biomarkers | Clinical medicine | Kidney diseases | Gene mapping | Index Medicus
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10. Full Text mtDNA-Server: next-generation sequencing data analysis of human mitochondrial DNA in the cloud
by Weissensteiner, Hansi and Forer, Lukas and Fuchsberger, Christian and Schöpf, Bernd and Kloss-Brandstätter, Anita and Specht, Günther and Kronenberg, Florian and Schönherr, Sebastian
Nucleic acids research, ISSN 0305-1048, 07/2016, Volume 44, Issue 1, pp. W64 - W69
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Genetic Variation | Computer Graphics | User-Computer Interface | Sequence Alignment | DNA, Mitochondrial - genetics | Mitochondria - genetics | Humans | Molecular Sequence Annotation | Sensitivity and Specificity | High-Throughput Nucleotide Sequencing | Sequence Analysis, DNA - statistics & numerical data | Internet | Index Medicus | Web Server issue
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