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1. 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
Genotype imputation is a key component of genetic association studies, where it increases power, facilitates meta-analysis, and aids interpretation of signals.... 
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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2. 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
Haplotype phasing is a fundamental problem in medical and population genetics. Phasing is generally performed via statistical phasing in a genotyped cohort, an... 
ADULT HEALTH | GENETIC EPIDEMIOLOGY RESEARCH | LINKAGE DISEQUILIBRIUM | GENOTYPE IMPUTATION | RECONSTRUCTION | GENETICS & HEREDITY | AGING GERA COHORT | INFERENCE | DATA SETS | ASSOCIATION | SEQ | Haplotypes | Genetic research | Identification and classification | Genetic screening | Innovations | Datasets | Studies | Consortia | Accuracy | Algorithms | Benchmarks | Genomes | Grants | Methods | Open source software | Index Medicus
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3. 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 Fraser, Ross M and Gabriel, Stacey and Levy, Shawn and Groop, Leif and Harrison, Tabitha and Hattersley, Anew and Holmen, Oddgeir L and Hveem, Kristian and Kretzler, Matthias and Lee, James C and McGue, Matt and Meitinger, Thomas and Melzer, David and Min, Josine L and Mohlke, Karen L and Vincent, John B and Nauck, Matthias and Nickerson, Deborah and Palotie, Aarno and Pato, Michele and Pirastu, Nicola and McInnis, Melvin and Richards, J. Brent and Sala, Cinzia and Salomaa, Veikko and Schlessinger, David and Schoenherr, Sebastian and Slagboom, P. Eline and Small, Kerrin and Spector, Timothy and Stambolian, Dwight and Tuke, Marcus and Tuomilehto, Jaakko and van den Berg, Leonard H and Van Rheenen, Wouter and Volker, Uwe and Wijmenga, Cisca and Toniolo, Daniela and Zeggini, Eleftheria and Gasparini, Paolo and Sampson, Matthew G and Wilson, James F and Frayling, Timothy and de Bakker, Paul I. W and Swertz, Morris A and McCarroll, Steven and Kooperberg, Charles and Dekker, Annelot and Altshuler, David and Willer, Cristen and Iacono, William and Ripatti, Samuli and ... and Haplotype Reference Consortium and the Haplotype Reference Consortium and Genomik, diabetes och endokrinologi and Lund University and Genomics, Diabetes and Endocrinology and Lunds universitet and EXODIAB: Excellence in Diabetes Research in Sweden
Nature Genetics, ISSN 1061-4036, 10/2016, Volume 48, Issue 10, pp. 1279 - 1283
We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly... 
Haplotypes | Genome-Wide Association Study | Humans | Alleles | Genotype | Reference Values | Polymorphism, Single Nucleotide | Internet | Genetic Techniques | Studies | Datasets | 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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4. 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
Background: The MapReduce framework enables a scalable processing and analyzing of large datasets by distributing the computational load on connected computer... 
CLUSTERS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | FRAMEWORK | TAVERNA | BIOINFORMATICS WORKFLOWS | GALAXY | TOOL | 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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5. Full Text Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
by Jacquemont, S and Reymond, A and Zufferey, F and Harewood, L and Walters, R.G and Kutalik, Z and Martinet, D and Shen, Y and Valsesia, A and Beckmann, N.D and Thorleifsson, G and Belfiore, M and Bouquillon, S and Campion, D and Leeuw, N. de and Vries, L.B.A. de and Esko, T and Fernandez, B.A and Fernandez-Aranda, F and Fernandez-Real, J.M and Gratacos, M and Guilmatre, A and Hoyer, J and Jarvelin, M.R and Kooy, R.F and Kurg, A and Caignec, C. Le and Mannik, K and Platt, O.S and Sanlaville, D and Haelst, M.M. van and Villatoro Gomez, S and Walha, F and Wu, B.L and Yu, Y and Aboura, A and Addor, M.C and Alembik, Y and Antonarakis, S.E and Arveiler, B and Barth, M and Bednarek, N and Bena, F and Bergmann, S and Beri, M and Bernardini, L and Blaumeiser, B and Bonneau, D and Bottani, A and Boute, O and Brunner, H.G and Cailley, D and Callier, P and Chiesa, J and Chrast, J and Coin, L and Coutton, C and Cuisset, J.M and Cuvellier, J.C and David, A and Freminville, B. de and Delobel, B and Delrue, M.A and Demeer, B and Descamps, D and Didelot, G and Dieterich, K and Disciglio, V and Doco-Fenzy, M and nat, S and Duban-Bedu, B and Dubourg, C and El-Sayed Moustafa, J.S and Elliott, P and Faas, B.H.W and Faivre, L and Faudet, A and Fellmann, F and Ferrarini, A and Fisher, R and Flori, E and Forer, L and Gaillard, D and Gerard, M and Gieger, C and Gimelli, S and Gimelli, G and Grabe, H.J and Guichet, A and Guillin, O and Hartikainen, A.L and Heron, D and Hippolyte, L and Holder, M and Homuth, G and Isidor, B and Jaillard, S and Jaros, Z and Jimenez-Murcia, S and Helas, G.J and ...
Nature, ISSN 0028-0836, 2011, Volume 478, Issue 7367, pp. 97 - 102
Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) DEPENDENT PROBE AMPLIFICATION | FAILURE-TO-THRIVE | METABOLIC SYNDROME | RELATIVE QUANTIFICATION | SNP GENOTYPING DATA | HIDDEN-MARKOV MODEL | MULTIDISCIPLINARY SCIENCES | BODY-MASS INDEX | TIME QUANTITATIVE PCR | COPY NUMBER VARIATION | CIRCULAR BINARY SEGMENTATION | Humans | Middle Aged | Child, Preschool | RNA, Messenger - analysis | Head - anatomy & histology | Infant | Male | Developmental Disabilities - genetics | Gene Expression Profiling | North America | Obesity - genetics | Case-Control Studies | Young Adult | Mental Disorders - genetics | Aging | Gene Duplication - genetics | Adult | Female | Transcription, Genetic | Energy Metabolism - genetics | Child | Infant, Newborn | Chromosomes, Human, Pair 16 - genetics | Body Mass Index | Gene Dosage - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Europe | RNA, Messenger - genetics | Mutation - genetics | Body Height - genetics | Thinness - genetics | Phenotype | Comparative Genomic Hybridization | Adolescent | Heterozygote | Aged | Cohort Studies | Sequence Deletion - genetics | Obesity | Chromosome mapping | Usage | Genetic variation | Genetic aspects | Cognition disorders | Research | Risk factors | Schizophrenia | Gender | Behavior | Gene expression | Bias | Index Medicus | Life Sciences | Human health and pathology | Genetics | Endocrinology and metabolism | Gene Duplication | Developmental Disabilities | Sequence Deletion | Thinness | genetics | Genetic Predisposition to Disease | Head | Gene Dosage | analysis | Energy Metabolism | Mental Disorders | Chromosomes, Human, Pair 16 | Body Height | Mutation | anatomy & histology | RNA, Messenger
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6. 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
Mitochondrial DNA (mtDNA) profiles can be classified into phylogenetic clusters (haplogroups), which is of great relevance for evolutionary, forensic and... 
FRAMEWORK | POPULATION-GENETICS | TREE | ASSOCIATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | TOOL | 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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7. 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
High lipoprotein (a) [Lp(a)] concentrations are an independent risk factor for cardiovascular outcomes. Concentrations are strongly influenced by apo(a)... 
coronary artery disease | MYOCARDIAL-INFARCTION | BIOCHEMISTRY & MOLECULAR BIOLOGY | CAUCASIANS | PLASMA LIPOPROTEIN(A) | LPA LOCUS | RISK | GENETIC-VARIANTS | IDENTIFICATION | epidemiology | genetics | MOLECULAR-BASIS | CORONARY-ARTERY-DISEASE | LP(A) | 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 | Apolipoproteins | Cardiovascular diseases | Heart diseases | Index Medicus
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8. 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
Aims Lp(a) concentrations represent a major cardiovascular risk factor and are almost entirely controlled by one single locus (LPA). However, many genetic... 
Lipoprotein(a) | Copy number variation | LPA | CVD risk | Kringle IV-type 2 | APOLIPOPROTEIN(A) GENE | CARDIAC & CARDIOVASCULAR SYSTEMS | DISEASES | PLASMA | RNA | SIZE | LIPOPROTEIN(A) LEVELS | Index Medicus | Editor's Choice | Fast Track Clinical Research
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9. Full Text Association of changes in bone mineral parameters with mortality in haemodialysis patients: insights from the ARO cohort
by Lamina, Claudia and Kronenberg, Florian and Stenvinkel, Peter and Froissart, Marc and Forer, Lukas and Schönherr, Sebastian and Wheeler, David C and Eckardt, Kai-Uwe and Floege, Jürgen
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, ISSN 0931-0509, 04/2019
There is little information in haemodialysis (HD) patients on whether temporal changes in serum calcium, phosphate or intact parathyroid hormone (iPTH) are... 
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10. Full Text Large-scale mitochondrial DNA analysis in Southeast Asia reveals evolutionary effects of cultural isolation in the multi-ethnic population of Myanmar
by Summerer, Monika and Horst, Jürgen and Erhart, Gertraud and Weißensteiner, Hansi and Schönherr, Sebastian and Pacher, Dominic and Forer, Lukas and Horst, David and Manhart, Angelika and Horst, Basil and Sanguansermsri, Torpong and Kloss-Brandstätter, Anita
BMC Evolutionary Biology, ISSN 1471-2148, 01/2014, Volume 14, Issue 1, pp. 17 - 17
Background: Myanmar is the largest country in mainland Southeast Asia with a population of 55 million people subdivided into more than 100 ethnic groups. Ruled... 
Bamar | Haplogroup | Gene flow | Southeast Asia | Migration | Control region | Demographic history | Burma | Karen | Population genetics | Complete mtDNA genome | MAXIMUM-LIKELIHOOD-ESTIMATION | MODERN HUMANS | EASTERN ASIA | MTDNA VARIATION | EVOLUTIONARY BIOLOGY | CONTROL REGION SEQUENCES | GENETICS | GENETICS & HEREDITY | GENOME VARIATION | COALESCENT APPROACH | Haplotypes | Genetics, Population | European Continental Ancestry Group - genetics | Asia, Southeastern - ethnology | Humans | Asian Continental Ancestry Group - genetics | Phylogeny | Asian Continental Ancestry Group - ethnology | DNA, Mitochondrial - genetics | Base Sequence | Myanmar - ethnology | Asian Continental Ancestry Group - classification | Genome, Mitochondrial | Culture | Evolution, Molecular | Genetic research | Burmese | Mitochondrial DNA | Genetic aspects | Research | Genomics | Social aspects | Analysis | Phylogenetics | Evolution | Mutation | Index Medicus
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11. Full Text 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 and Weissensteiner, Hansi and Erhart, Gertraud and Schäfer, Georg and Forer, Lukas and Schönherr, Sebastian and Pacher, Dominic and Seifarth, Christof and Stöckl, Andrea and Fendt, Liane and Sottsas, Irma and Klocker, Helmut and Huck, Christian W and Rasse, Michael and Kronenberg, Florian and Kloss, Frank R
PLoS ONE, ISSN 1932-6203, 08/2015, Volume 10, Issue 8, pp. e0135643 - e0135643
Background Oral squamous cell carcinoma (OSCC) is mainly caused by smoking and alcohol abuse and shows a five-year survival rate of similar to 50%. We aimed to... 
HEAD | CANCERIZATION | ALIGNMENT | POLYMERASE-GAMMA | MULTIDISCIPLINARY SCIENCES | DISEASE | AMINO-ACID SUBSTITUTIONS | MTDNA HETEROPLASMY | NON-SYNONYMOUS VARIANTS | SOMATIC MUTATIONS | NECK-CANCER | Reproducibility of Results | Carcinoma, Squamous Cell - genetics | Carcinoma, Squamous Cell - pathology | Humans | Neoplasm Recurrence, Local | Molecular Sequence Data | DNA, Mitochondrial - genetics | Sensitivity and Specificity | Mouth Neoplasms - pathology | Genome, Mitochondrial | Mutation | High-Throughput Nucleotide Sequencing - methods | Mouth Neoplasms - genetics | Sequence Analysis, DNA - methods | Squamous cell carcinoma | Gene mutations | Alcoholism | Genomics | Development and progression | Genetic aspects | Genomes | Mitochondrial DNA | Nucleotide sequencing | Cancer | DNA sequencing | Drug abuse | Oral cancer | Amino acids | Alcohol | Metastasis | Tissues | Epidemiology | Urology | Lymph nodes | Data bases | Information systems | Gene sequencing | Metastases | Risk assessment | Neck | Bioinformatics | Deoxyribonucleic acid--DNA | Abuse | Benign | Oral squamous cell carcinoma | Patients | Low level | Computer science | Artifacts | Heteroplasmy | Genetic testing | Prostate cancer | Tumors | Smoking | Lymph | Index Medicus | Deoxyribonucleic acid | DNA
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