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1. Full Text New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)
by Van Gijn, Marielle E and Ceccherini, Isabella and Shinar, Yael and Carbo, Ellen C and Slofstra, Mariska and Arostegui, Juan I and Sarrabay, Guillaume and Rowczenio, Dorota and Omoyımnı, Ebun and Balci-Peynircioglu, Banu and Hoffman, Hal M and Milhavet, Florian and Swertz, Morris A and Touitou, Isabelle
Journal of Medical Genetics, ISSN 0022-2593, 08/2018, Volume 55, Issue 8, pp. 530 - 537
ENCODING MEVALONATE KINASE | DIAGNOSIS | ACTIVATION | PROTEIN | FAMILIAL MEDITERRANEAN FEVER | GUIDELINES | PHENOTYPE | PERIODIC FEVER | PYRIN INFLAMMASOME | MEFV MUTATIONS | infevers | genetic diagnosis | molgenis | hereditary recurrent fever | pathogenicity classification | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Immunoglobulins | Genomics | Genes | Rheumatology | Genomes | Kinases | Medical diagnosis | Fever | Genetic screening | Inflammatory diseases | Pathogenicity | Proteins | Genetic variance | Databases | Collaboration | Information sharing | Heavy chains | Classification | Genetics | Skin diseases | Tumor necrosis factor-TNF | Mutation | Diagnosis | Life Sciences
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2. Full Text The effect of host genetics on the gut microbiome
by Bonder, M.J and Kurilshikov, A and Tigchelaar, E.F and Mujagic, Z and Imhann, F and Vila, A.V and Deelen, P and Vatanen, T and Schirmer, M and Smeekens, S.P and Zhernakova, D.V and Jankipersadsing, S.A and Jaeger, M and Oosting, M and Cenit, M.C and Masclee, A.A and Swertz, M.A and Li, Y and Kumar, V and Joosten, L.A and Harmsen, H and Weersma, R.K and Franke, L and Hofker, M.H and Xavier, R.J and Jonkers, D and Netea, M.G and Wijmenga, C and Fu, J and Zhernakova, A
Nature genetics, ISSN 1061-4036, 2016, Volume 48, Issue 11, pp. 1407 - 1412
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genome-Wide Association Study | Humans | Middle Aged | Gastrointestinal Microbiome | Male | Young Adult | Animals | Adolescent | Adult | Female | Aged | Mice | Polymorphism, Single Nucleotide | Genome, Human | Immunity - genetics | Cohort Studies | Host-bacteria relationships | Genotype | Genetic aspects | Microbiota (Symbiotic organisms) | Properties | Growth | Disease | Taxonomy | Funding | Genomics | Genomes | Grants | Metabolism | Vocabularies & taxonomies | Studies | Nutrition research | Archives & records | Genetics | Bacteria | Gene loci | Index Medicus
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3. Full Text Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs
by Van Der Wijst, Monique G. P and Brugge, Harm and De Vries, Dylan H and Deelen, Patrick and Swertz, Morris A and Franke, Lude and LifeLines Cohort Study and BIOS Consortium
Nature genetics, ISSN 1061-4036, 04/2018, Volume 50, Issue 4, pp. 493 - 497
co-expression QTL | single-cell RNA-sequencing | scRNA-seq | PANEL | IMMUNE CELLS | ASSOCIATIONS | gene regulation | GENOTYPE IMPUTATION | GENE-EXPRESSION | DRIVERS | REGULATORS | eQTL | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Leukocytes, Mononuclear - classification | Sequence Analysis, RNA - methods | Leukocytes, Mononuclear - metabolism | Genome-Wide Association Study | Epistasis, Genetic | Single-Cell Analysis - methods | Humans | Transcriptome | Leukocytes, Mononuclear - cytology | Gene Regulatory Networks | Quantitative Trait Loci | Downstream effects | Leukocytes (mononuclear) | Genomes | Ribonucleic acid--RNA | Gene expression | Gene sequencing | Datasets | Quantitative trait loci | Studies | Consortia | Genetic variance | Genotype & phenotype | Lymphocytes | Peripheral blood mononuclear cells | Gene mapping | Index Medicus
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4. Full Text PeakML/mzMatch: A File Format, Java Library, R Library, and Tool-Chain for Mass Spectrometry Data Analysis
by Scheltema, Richard A and Jankevics, Andris and Jansen, Ritsert C and Swertz, Morris A and Breitling, Rainer
Analytical chemistry (Washington), ISSN 0003-2700, 04/2011, Volume 83, Issue 7, pp. 2786 - 2793
ORBITRAP | METABOLOMICS | REDUCTION | FRAMEWORK | ONTOLOGY | MODEL | UMCG Approved | LC-MS DATA | Physical Sciences | Chemistry | Chemistry, Analytical | Science & Technology | Analytical chemistry | Pollution | Exact sciences and technology | Spectrometric and optical methods | Global environmental pollution | Applied sciences | Computer Graphics | Software | Information Storage and Retrieval - methods | Statistics as Topic - methods | Mass Spectrometry - methods | Technology application | Electronic data processing | Management | Mass spectrometry | Methods | Data analysis | Software packages | Chemical compounds | Open source software | Index Medicus
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5. Full Text Inter-individual variability and genetic influences on cytokine responses to bacteria and fungi
by Li, Y and Oosting, M and Deelen, P and Ricano-Ponce, I and Smeekens, S.P and Jaeger, M and Matzaraki, V and Swertz, M.A and Xavier, R.J and Franke, L and Wijmenga, C and Joosten, L.A.B and Kumar, V and Netea, M.G
Nature medicine, ISSN 1078-8956, 2016, Volume 22, Issue 8, pp. 952 - 960
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | N-Terminal Acetyltransferase C - genetics | Humans | Middle Aged | Mycobacterium tuberculosis - immunology | Male | Gene Expression Profiling | Fungi - immunology | Genetic Variation | Young Adult | Bacteria - immunology | Leukocytes, Mononuclear - immunology | Adult | Female | Chromosomes, Human, Pair 1 - genetics | Cytokines - immunology | Bacteroides fragilis - immunology | European Continental Ancestry Group - genetics | Membrane Proteins - genetics | Immunogenetic Phenomena | Escherichia coli - immunology | Candidemia - immunology | Genotype | Candida albicans - immunology | Immunity, Innate - immunology | Phenotype | Aspergillus fumigatus - immunology | Interleukin-6 - immunology | Individuality | Staphylococcus aureus - immunology | Aged | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 7 - genetics | Quantitative Trait Loci | Immune response | Cytokines | Genetic variation | Communicable diseases | Development and progression | Genetic aspects | Properties | Health aspects | Fungi | Pathogens | Genetics | Bacteria | Index Medicus
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6. Full Text Genome-wide patterns and properties of de novo mutations in humans
by Francioli, Laurent and Polak, P and Koren, Amnon and Menelaou, Anoniki and Chun, Sung and Renkens, Ivo and Duijn, Cornelia and Swertz, Morris and Wijmenga, Cisca and Van Ommen, Gertjan and Slagboom, Eline and Boomsma, Dorret and Ye, Kai and Guryev, Victor and Arndt, Peter F and Kloosterman, Wigard and Bakker, Paul and Sunyaev, Shamil and Genome Netherlands Consortium and Genome of the Netherlands Consortium
Nature genetics, ISSN 1061-4036, 06/2015, Volume 47, Issue 7, pp. 822 - 826
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Animals | Paternal Age | Humans | Pan troglodytes - genetics | Germ-Line Mutation | Female | Male | Mutation Rate | Models, Genetic | Genome, Human | Evolution, Molecular | Genetic disorders | Gene mutations | Genetic research | Disease susceptibility | Genetic aspects | Identification and classification | Risk factors | Mutagenesis | Spermatogenesis | Epigenetics | Genomes | Mutation | Gene expression | Age | Deoxyribonucleic acid--DNA | Index Medicus
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7. Full Text The Interaction of Genetic Predisposition and Socioeconomic Position With Type 2 Diabetes Mellitus: Cross-Sectional and Longitudinal Analyses From the Lifelines Cohort and Biobank Study
by van Zon, Sander K. R and Reijneveld, Sijmen A and van der Most, Peter Johannes and Snieder, Harold and Bultmann, Ute and Swertz, Morris
Psychosomatic medicine, ISSN 0033-3174, 04/2018, Volume 80, Issue 3, pp. 252 - 262
METAANALYSIS | socioeconomic position | STYLE RISK-FACTORS | SUSCEPTIBILITY | cross-sectional | PREVENTION | genetic risk score | Journal Article | OBESITY | LIFE-STYLE | DISEASE | MEN | type 2 diabetes mellitus | genetic predisposition | longitudinal | LifeLines Cohort Study | GENOME-WIDE ASSOCIATION | DUTCH ADULTS | Genetic predisposition | Socioeconomic status | Type 2 diabetes mellitus | Socioeconomic position | Genetic risk score | Interaction | Psychology, Multidisciplinary | Social Sciences | Life Sciences & Biomedicine | Psychiatry | Psychology | Science & Technology | Genetic Predisposition to Disease | Genome-Wide Association Study | Cross-Sectional Studies | Diabetes Mellitus, Type 2 - genetics | Humans | Middle Aged | Netherlands - epidemiology | Male | Social Class | Diabetes Mellitus, Type 2 - epidemiology | Biological Specimen Banks | Adult | Diabetes Mellitus, Type 2 - etiology | Female | Polymorphism, Single Nucleotide | Longitudinal Studies | Type 2 diabetes | Genetic aspects | Research | Genetic susceptibility | Risk factors | Genotype & phenotype | Socioeconomic factors | Diabetes mellitus | Socio-economic aspects | Genetics | Diabetes | Diabetes mellitus (non-insulin dependent) | Index Medicus
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8. Full Text MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update
by Dhekne, Herschel S and Pylypenko, O and Overeem, Arend W and Ferreira, R.J and van der Velde, K.J and Rings, Edmond and Posovszky, Carsten and Swertz, M.A and Houdusse, A and IJzendoorn, Sven
Human mutation, ISSN 1059-7794, 01/2018, Volume 39, Issue 3, pp. 333 - 344
Syntaxin-3 | Congenital diarrheal diseases | Microvillus inclusion disease | MYO5B | STXBP2 | Enteropathy | Myosin VB | Munc18-2 | STX3 | enteropathy | congenital diarrheal diseases | microvillus inclusion disease | munc18‐2 | myosin VB | syntaxin‐3 | munc18-2 | syntaxin-3 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Animals | Munc18 Proteins - genetics | Myosin Type V - genetics | Diarrhea - genetics | Diarrhea - congenital | Humans | Qa-SNARE Proteins - genetics | Mutation - genetics | Medical research | Genetic disorders | Gene mutations | Analysis | Myosin | Genetic research | Diarrhea | Medicine, Experimental | Genetic aspects | Muscle proteins | Animal models | Cytomegalic inclusion disease | Congenital diseases | Microvillus | Mutation | Hereditary diseases | Index Medicus | Life Sciences | Human health and pathology | Subcellular Processes | Cellular Biology | Tissues and Organs | Mutation Update | Mutation Updates
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9. Full Text NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing
by Johansson, Lennart F and de Weerd, Henik A and de Boer, Eddy N and van Dijk, Freerk and Te Meerman, Gerard J and Sijmons, Rolf H and Sikkema-Raddatz, Birgit and Swertz, Morris A
BMC bioinformatics, ISSN 1471-2105, 12/2018, Volume 19, Issue 1, pp. 531 - 531
DNA | Trisomy prediction | Next-generation sequencing | NIPT | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Biochemical Research Methods | Science & Technology | Mathematical & Computational Biology | Pregnancy | Predictive Value of Tests | Trisomy - diagnosis | Algorithms | Humans | Female | High-Throughput Nucleotide Sequencing - methods | Maternal Serum Screening Tests | Prenatal Diagnosis - methods | Usage | Trisomy | Prenatal diagnosis | Diagnosis | Plasma | Statistical analysis | Variability | Fetuses | Workflow | Data processing | Statistical methods | Mathematical analysis | Quality control | Software | Quality assessment | Bioinformatics | Chromosomes | Deoxyribonucleic acid--DNA | Index Medicus
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10. Full Text The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button
by Swertz, Morris A and Dijkstra, Martijn and Adamusiak, Tomasz and van der Velde, Joeri K and Kanterakis, Alexanos and Roos, Erik T and Lops, Joris and Thorisson, Gudmundur A and Arends, Danny and Byelas, George and Muilu, Juha and Brookes, Anthony J and de Brock, Engbert O and Jansen, Ritsert C and Parkinson, Helen
BMC bioinformatics, ISSN 1471-2105, 12/2010, Volume 11 suppl 12, Issue S12, pp. S12 - S12
DATABASES | SCIENCES | GENOMICS | CHALLENGES | Very Good | User-Computer Interface | Computational Biology - methods | Phenotype | Genomics | Databases, Genetic | Information Systems | Software | Internet | Code reuse | Medical research | Colleges & universities | Generators | Genomes | Gene expression | Manuscripts | Information systems | Application programming interface | Databases | Infrastructure | Genetics | Methods | Index Medicus
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