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Sleep, ISSN 0161-8105, 11/2018, Volume 41, Issue 11
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 07/2016, Volume 61, Issue 7, pp. 627 - 632
The evenness score (E) in next-generation sequencing (NGS) quantifies the homogeneity in coverage of the NGS targets. Here I clarify the mathematical... 
LOGNORMAL-DISTRIBUTION | GENETICS & HEREDITY | Models, Theoretical | Algorithms | Models, Statistical | High-Throughput Nucleotide Sequencing - methods | Humans | High-Throughput Nucleotide Sequencing - standards
Journal Article
Human Genetics, ISSN 0340-6717, 3/2016, Volume 135, Issue 3, pp. 359 - 362
Current clinical next-generation sequencing is done by using gene panels and exome analysis, both of which involve selective capturing of target regions.... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | EXOME | VARIANTS | STRUCTURAL VARIATION | CAPTURE | GENOME | GENETICS & HEREDITY | Exome | Exons | Genomics | Humans | Open Reading Frames | Female | High-Throughput Nucleotide Sequencing | Genome, Human | Sequence Analysis, DNA | Genomes | Nucleotide sequencing | DNA sequencing | Index Medicus | Short Report
Journal Article
Neuron, ISSN 0896-6273, 05/2018, Volume 98, Issue 4, pp. 671 - 672
Rare variants cause Mendelian family aggregation in subsets of common diseases, and common variants may contribute to rare diseases. In this issue of , report... 
rare variants | migraine | Brugada syndrome | rare disorders | family aggregation | HEY2 | common disease | common variants | MIGRAINE | NEUROSCIENCES | LOCI | Migraine | Headache | Disease | Pathogenesis | DNA methylation | Families & family life | Schizophrenia | Population | Genomes | Gene loci | Mutation | Index Medicus
Journal Article
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 11, pp. 1584 - 1592
Persistent insomnia is among the most frequent complaints in general practice. To identify genetic factors for insomnia complaints, we performed a genome-wide... 
SLEEP DISTURBANCE | HUMAN HEIGHT | POPULATION | METAANALYSIS | RESTLESS LEGS SYNDROME | MYOCARDIAL-INFARCTION | VARIANTS | GENETICS & HEREDITY | SEX-DIFFERENCES | PERSISTENT INSOMNIA | EPIDEMIOLOGY | Humans | Type D Personality | Male | Educational Status | Genetic Loci | Gene Regulatory Networks | Restless Legs Syndrome - genetics | Restless Legs Syndrome - metabolism | Adult | Female | Quality of Life - psychology | Neoplasm Proteins - genetics | Sleep Initiation and Maintenance Disorders - metabolism | Gene Expression | Genetic Predisposition to Disease | Genome-Wide Association Study | Restless Legs Syndrome - physiopathology | Gene Frequency | Chromosome Mapping | Homeodomain Proteins - genetics | Protein Interaction Mapping | Restless Legs Syndrome - psychology | Alleles | Sex Factors | Sleep Initiation and Maintenance Disorders - genetics | Sleep Initiation and Maintenance Disorders - physiopathology | Polymorphism, Single Nucleotide | Myeloid Ecotropic Viral Integration Site 1 Protein | Genome, Human | Sleep Initiation and Maintenance Disorders - psychology | Care and treatment | Genome-wide association studies | Insomnia | Development and progression | Genotype | Genetic aspects | Health aspects | Methods | Legs | Psychological factors | Genes | Association analysis | Gender differences | Genomes | Metabolism | Loci | Independent sample | Studies | Restless legs syndrome | Sleep disorders | Pleiotropy | Sexes | Genetic factors | Bioinformatics | Index Medicus
Journal Article
by Verhoeven, Virginie J. M and Hysi, Pirro G and Wojciechowski, Robert and Fan, Qiao and Guggenheim, Jeremy A and Höhn, René and Macgregor, Stuart and Hewitt, Alex W and Nag, Abhishek and Cheng, Ching-Yu and Yonova-Doing, Ekaterina and Zhou, Xin and Ikram, M. Kamran and Buitendijk, Gabriëlle H. S and McMahon, George and Kemp, John P and Pourcain, Beate St and Simpson, Claire L and Mäkelä, Kari-Matti and Lehtimäki, Terho and Kähönen, Mika and Paterson, Anew D and Hosseini, S. Mohsen and Wong, Hoi Suen and Xu, Liang and Jonas, Jost B and Pärssinen, Olavi and Wedenoja, Juho and Yip, Shea Ping and Ho, Daniel W. H and Pang, Chi Pui and Chen, Li Jia and Burdon, Kathryn P and Craig, Jamie E and Klein, Barbara E. K and Klein, Ronald and Haller, Toomas and Metspalu, Anes and Khor, Chiea-Chuen and Tai, E.-Shyong and Aung, Tin and Vithana, Eranga and Tay, Wan-Ting and Barathi, Veluchamy A and Chen, Peng and Li, Ruoying and Liao, Jiemin and Zheng, Yingfeng and Ong, Rick T and Döring, Angela and Evans, David M and Timpson, Nicholas J and Verkerk, Annemieke J. M. H and Meitinger, Thomas and Raitakari, Olli and Hawthorne, Felicia and Spector, Tim D and Karssen, Lennart C and Pirastu, Mario and Murgia, Federico and Ang, Wei and Mishra, Aniket and Montgomery, Grant W and Pennell, Craig E and Cumberland, Phillippa M and Cotlarciuc, Ioana and Mitchell, Paul and Wang, Jie Jin and Schache, Maria and Janmahasathian, Sarayut and Igo, Robert P and Lass, Jonathan H and Chew, Emily and Iyengar, Sudha K and Gorgels, Theo G. M. F and Rudan, Igor and Hayward, Caroline and Wright, Alan F and Polasek, Ozren and Vatavuk, Zoran and Wilson, James F and Fleck, Brian and Zeller, Tanja and Mirshahi, Alireza and Müller, Christian and Uitterlinden, Ané G and Rivadeneira, Fernando and Vingerling, Johannes R and Hofman, Albert and Oostra, Ben A and Amin, Najaf and Bergen, Arthur A. B and teo, Yik-Ying and Rahi, Jugnoo S and Vitart, Veronique and Williams, Cathy and Baird, Paul N and Wong, Tien-Yin and Oexle, Konrad and Pfeiffer, Norbert and ... and Fuchs' Genetics Multi-Ctr Study Gr and Diabet Control Complications Trial and WTCCC2 and CREAM and Consortium for Refractive Error and Myopia (CREAM) and Fuchs' Genetics Multi-Center Study Group and Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) Research Group and Wellcome Trust Case Control Consortium 2 (WTCCC2) and The Fuchs' Genetics Multi-Center Study Group and The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) Research Group
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 3, pp. 314 - 318
Journal Article
Journal of Immunology, ISSN 0022-1767, 09/2017, Volume 199, Issue 6, pp. 2158 - 2170
Factor D (FD), which is also known as adipsin, is regarded as the first-acting protease of the alternative pathway (AP) of complement. It has been suggested... 
ACTIVATION | PRO-FACTOR D | ADIPSIN | PURIFICATION | SERINE-PROTEASE | MUTATIONS | IMMUNOLOGY | LECTIN-PATHWAY | PROTEINS | DEFICIENCY | D CLEAVING ACTIVITY | Maturation | Serine | Complement | Mannose | Alternative pathway | Patients | Complement factor D | Mutants | Proteins | Protease | Mannose-binding lectin | Isoforms | Mice | Serine proteinase | Isoelectric focusing | MASP-1 protein
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2011, Volume 89, Issue 4, pp. 543 - 550
Journal Article
Der Nervenarzt, ISSN 0028-2804, 2/2019, Volume 90, Issue 2, pp. 131 - 137
Nach beträchtlichen Erfolgen als Forschungsinstrument findet die „Whole-exome“-Sequenzierung (WES) wegen hoher diagnostischer, zeitlicher und wirtschaftlicher... 
Psychotherapy | Variant classification | Neurosurgery | Präzisionsmedizin | Medicine/Public Health, general | Genetic heterogeneity | Neurology | Medicine & Public Health | Precision medicine | Variant identification | Variantenidentifikation | Exome sequencing | Exomsequenzierung | Variantenklassifikation | Genetische Heterogenität | Psychiatry
Journal Article
Der Nervenarzt, ISSN 0028-2804, 02/2019, Volume 90, Issue 2, p. 131
Nach betrachtlichen Erfolgen als Forschungsinstrument findet die "Whole-exome"-Sequenzierung (WES) wegen hoher diagnostischer, zeitlicher und wirtschaftlicher... 
Nervous system diseases | Gene mutations | Medical genetics
Journal Article
Nature Communications, ISSN 2041-1723, 01/2014, Volume 5, Issue 1, pp. 4926 - 4926
Journal Article