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Science, ISSN 0036-8075, 06/2015, Volume 348, Issue 6240, pp. 1205 - 1206
  The human genome is subject to continuous change as a result of spontaneous DNA mutation. Most of the genetic changes are harmless, but occasionally they can... 
MECHANISMS | REARRANGEMENTS | CHROMOTHRIPSIS | MULTIDISCIPLINARY SCIENCES | Mutation | Molecular biology | Genomics | Deoxyribonucleic acid--DNA | Mutations | Molecular structure | Deoxyribonucleic acid | Genetics | Genomes | Nucleotides | Chromosomes | Cancer
Journal Article
Genome Biology, ISSN 1474-7596, 07/2018, Volume 19, Issue 1, pp. 90 - 11
Nanopore sequencing is a rapidly maturing technology delivering long reads in real time on a portable instrument at low cost. Not surprisingly, the community... 
METHYLATION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | DNA | GENETICS & HEREDITY | MINION | SURVEILLANCE | TIME | BACTERIAL | MUTATIONS | CANCER | GENOME | Accuracy | Data analysis | Computer applications | DNA methylation | Software | Genomes | Genetic testing | Mutation | Artificial intelligence | Deoxyribonucleic acid--DNA | Cancer
Journal Article
Science (New York, N.Y.), 06/2015, Volume 348, Issue 6240, p. 1205
Journal Article
Current Opinion in Cell Biology, ISSN 0955-0674, 2016, Volume 40, pp. 106 - 113
Human genomes are continuously subjected to mutations, which can drive genetic diseases and cancer. An intriguing recent finding has been the discovery of... 
Internal Medicine | MICRONUCLEI | GERMLINE | REPAIR | EVOLUTION | COPY NUMBER | MECHANISMS | DYSFUNCTION | CANCER GENOMES | DNA BREAKS | CHROMOSOMAL REARRANGEMENTS | CELL BIOLOGY | Neoplasms - genetics | Humans | Chromosome Aberrations | DNA Breaks | DNA Replication | DNA Damage | Mutation | Genome, Human | Germ Cells | Telomere | Chromothripsis | Telomeres | DNA replication | Genetic disorders | Analysis | Genomics
Journal Article
Current Opinion in Cell Biology, ISSN 0955-0674, 2013, Volume 25, Issue 3, pp. 341 - 348
Genomic rearrangements may give rise to congenital disease and contribute to cancer development. Recent evidence has shown that very complex genomic... 
Internal Medicine | GENOMIC REARRANGEMENTS | TRANSLOCATIONS | BREAKS | COMMON | MECHANISMS | COMPLEX CHROMOSOMAL REARRANGEMENTS | DNA-REPAIR | STRUCTURAL VARIATION | PULVERIZATION | CELL BIOLOGY | Neoplasms - genetics | Genome, Human | Humans | Chromosome Disorders - genetics | Chromosome Aberrations | Chromosomes | Genetic disorders | Cancer
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 04/2015, Volume 96, Issue 4, p. 651
  Chromothripsis represents an extreme class of complex chromosome rearrangements (CCRs) with major effects on chromosomal architecture. Although recent... 
Proteins | Genotype & phenotype | Congenital diseases | Genomics | Genetics | Chromosomes | Risk factors
Journal Article
Nature Methods, ISSN 1548-7091, 01/2006, Volume 3, Issue 1, pp. 27 - 29
MicroRNAs (miRNAs) are 20-23 nucleotide (nt) RNA molecules that regulate gene expression post-transcriptionally. A key step toward understanding the function... 
Animals | MicroRNAs - analysis | Oligonucleotides | Oligonucleotides, Antisense - chemistry | Embryo, Nonmammalian - chemistry | Gene Expression Profiling - methods | Mice | Oligonucleotide Probes - chemistry | Embryo, Mammalian - chemistry | In Situ Hybridization - methods | Zebrafish - genetics
Journal Article
Science, ISSN 0036-8075, 07/2005, Volume 309, Issue 5732, pp. 310 - 311
Journal Article
Journal Article
Developmental Cell, ISSN 1534-5807, 2006, Volume 11, Issue 4, pp. 441 - 450
Journal Article
Recent Results in Cancer Research, ISSN 0080-0015, 2015, Volume 200, pp. 165 - 193
In recent years, enormous progress has been made with respect to the identification of somatic mutations that contribute to cancer development. Mutation types... 
Next-generation paired-end sequencing | Chromosomal rearrangement | Chromothripsis | Mutation signatures | Neoplasms - therapy | Animals | Neoplasms - etiology | Prognosis | Neoplasms - genetics | Gene Rearrangement | Humans | Chromosome Aberrations | Genome
Journal Article
by Francioli, Laurent C and Menelaou, Anoniki and Pulit, Sara L and van Dijk, Freerk and Palamara, Pier Francesco and Elbers, Clara C and Neerincx, Pieter B. T and Ye, Kai and Guryev, Victor and Kloosterman, Wigard P and Deelen, Patrick and Abdellaoui, Abdel and van Leeuwen, Elisabeth M and van Oven, Mannis and Vermaat, Martijn and Li, Mingkun and Laros, Jeroen F. J and Karssen, Lennart C and Kanterakis, Alexanos and Amin, Najaf and Hottenga, Jouke Jan and Lameijer, Eric-Wubbo and Kattenberg, Mathijs and Dijkstra, Martijn and Byelas, Heorhiy and van Setten, Jessica and van Schaik, Barbera D. C and Bot, Jan and Nijman, Isaäc J and Renkens, Ivo and Marschall, Tobias and Schönhuth, Alexander and Hehir-Kwa, Jayne Y and Handsaker, Robert E and Polak, Paz and Sohail, Mashaal and Vuzman, Dana and Hormozdiari, Fereydoun and van Enckevort, David and Mei, Hailiang and Koval, Vyacheslav and Moed, Matthijs H and van der Velde, K. Joeri and Rivadeneira, Fernando and Estrada, Karol and Medina-Gomez, Carolina and Isaacs, Aaron and McCarroll, Steven A and Beekman, Marian and de Craen, Anton J. M and Suchiman, H. Eka D and Hofman, Albert and Oostra, Ben and Uitterlinden, Ané G and Willemsen, Gonneke and Platteel, Mathieu and Veldink, Jan H and van den Berg, Leonard H and Pitts, Steven J and Potluri, Shobha and Sundar, Purnima and Cox, David R and Sunyaev, Shamil R and den Dunnen, Johan T and Stoneking, Mark and de Knijff, Peter and Kayser, Manfred and Li, Qibin and Li, Yingrui and Du, Yuanping and Chen, Ruoyan and Cao, Hongzhi and Li, Ning and Cao, Sujie and Wang, Jun and Bovenberg, Jasper A and Pe'er, Itsik and Slagboom, P. Eline and van Duijn, Cornelia M and Boomsma, Dorret I and van Ommen, Gert-Jan B and de Bakker, Paul I. W and Swertz, Morris A and Wijmenga, Cisca and LifeLines Cohort Study and Genome Netherlands Consortium and Genome of the Netherlands Consortium and The Genome of the Netherlands Consortium
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 8, pp. 818 - 825
Journal Article