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11/2013
Schizophrenia is a genetically complex neuropsychiatric disease. Myths and uncertainty about aetiology, and concerns about familial recurrence, may contribute... 
0369 | genetic counselling | copy number variation | genetic testing | schizophrenia
Dissertation
Genomics, ISSN 0888-7543, 2018
Spodoptera litura is a polyphagous pest and can feed on more than 100 species of plants, causing great damage to agricultural production. The SNP results... 
Copy number variation | Spodoptera litura | Selection | Adaptation
Journal Article
06/2009
Epithelial ovarian cancer is the leading cause of death by gynaecological malignancy. Elucidation of the driver genes of ovarian cancer will lead to treatment... 
0369 | copy number variation | ovarian cancer
Dissertation
NATURE REVIEWS GENETICS, ISSN 1471-0056, 05/2011, Volume 12, Issue 5, pp. 363 - 375
Comparisons of human genomes show that more base pairs are altered as a result of structural variation - including copy number variation - than as a result of... 
COMBINATORIAL ALGORITHMS | VARIANTS | DNA | GENETICS & HEREDITY | RECENT SEGMENTAL DUPLICATIONS | FINE-SCALE | ACCURATE DETECTION | POLYMORPHISM | RESOLUTION ARRAY CGH | COPY-NUMBER VARIATION | REAL-TIME
Journal Article
NATURE REVIEWS GENETICS, ISSN 1471-0056, 06/2010, Volume 11, Issue 6, pp. 446 - 450
Although recent genome-wide studies have provided valuable insights into the genetic basis of human disease, they have explained relatively little of the... 
GENETIC ASSOCIATION | RARE VARIANTS | COMMON DISEASES | SUSCEPTIBILITY | GENETICS & HEREDITY | GERM-CELL TUMORS | SEQUENCE VARIANTS | COPY NUMBER VARIATION | EPISTASIS | SINGLE-NUCLEOTIDE POLYMORPHISMS | GENOME-WIDE ASSOCIATION
Journal Article
NATURE REVIEWS GENETICS, ISSN 1471-0056, 08/2012, Volume 13, Issue 8, pp. 565 - 575
New mutations have long been known to cause genetic disease, but their true contribution to the disease burden can only now be determined using family-based... 
INTELLECTUAL DISABILITY | GERMLINE | 17Q21.31 MICRODELETION SYNDROME | MEIOTIC RECOMBINATION HOTSPOTS | GENETICS & HEREDITY | AGE EFFECT MUTATIONS | SPECTRUM | COPY NUMBER VARIATION | SOMATIC MOSAICISM | SELECTION | COMMON INVERSION
Journal Article
Genomics, ISSN 0888-7543, 05/2019
Copy number variation (CNV) refers to a kind of structural variation, having functional and evolutionary effects on phenotypes. Thus far, further elucidation... 
Journal Article
Cell Cycle, ISSN 1538-4101, 06/2019, Volume 18, Issue 11, pp. 1292 - 1294
Sezary Syndrome is an aggressive T-cell Lymphoma involving blood, skin and lymphonodes Involvement of the CXCR4-SDF1 has been previously shown. We here present... 
B-arrestin | Leukemia/lymphoma | CTCL | Copy Number Variation | CXCR4-SDF-1
Journal Article
NATURE REVIEWS GENETICS, ISSN 1471-0056, 11/2015, Volume 16, Issue 11, pp. 627 - 640
The discovery of genetic variation and the assembly of genome sequences are both inextricably linked to advances in DNA-sequencing technology. Short-read... 
REVEALS INSIGHTS | INVERSION POLYMORPHISM | GENETICS & HEREDITY | SEGMENTAL DUPLICATIONS | 15Q13.3 MICRODELETION | LOCAL ALIGNMENT | HEXANUCLEOTIDE REPEAT | PAIRED-END | POPULATION-SCALE | COMMON INVERSION | COPY-NUMBER VARIATION
Journal Article
NATURE REVIEWS GENETICS, ISSN 1471-0056, 08/2012, Volume 13, Issue 8, pp. 537 - 551
Psychiatric disorders are among the most intractable enigmas in medicine. In the past 5 years, there has been unprecedented progress on the genetics of many of... 
INSTITUTES-OF-HEALTH | COMMON VARIANTS | DE-NOVO MUTATIONS | DEFICIT HYPERACTIVITY DISORDER | GENETICS & HEREDITY | SUSCEPTIBILITY LOCI | BIPOLAR-DISORDER | COPY NUMBER VARIATION | SEROTONIN TRANSPORTER GENE | ALCOHOL DEPENDENCE | GENOME-WIDE ASSOCIATION
Journal Article
Reproductive BioMedicine Online, ISSN 1472-6483, 08/2019, Volume 39, pp. e28 - e29
Journal Article
SCIENCE, ISSN 0036-8075, 11/2014, Volume 346, Issue 6211, pp. 826 - 826
DNA double-strand breaks (DSBs) are introduced in meiosis to initiate recombination and generate crossovers, the reciprocal exchanges of genetic material... 
POPULATION | SPERM CELLS | DNA | MULTIDISCIPLINARY SCIENCES | WIDE ANALYSIS | DOUBLE-STRAND BREAKS | HOT-SPOT | HOTSPOTS | COPY NUMBER VARIATION | SACCHAROMYCES-CEREVISIAE | MEIOTIC RECOMBINATION
Journal Article
11/2012
Familial Pancreatic Cancer (FPC) is a cancer syndrome characterized by clustering of pancreatic cancer in families, but most FPC cases do not have a known... 
0369 | tumor suppressor genes | exome sequencing | copy number variation | 0564 | oncogenes | familial pancreatic cancer
Dissertation
Science, ISSN 0036-8075, 01/2015, Volume 347, Issue 6218, pp. 1254806 - 1254806
To facilitate precision medicine and whole-genome annotation, we developed a machine-learning technique that scores how strongly genetic variants affect RNA... 
MESSENGER-RNA | FUNCTIONAL IMPACT | MULTIDISCIPLINARY SCIENCES | AUTISM SPECTRUM DISORDER | MISMATCH REPAIR | EXONIC VARIANTS | HUMAN CANCERS | COPY NUMBER VARIATION | MISSENSE MUTATIONS | GENOME | PREDICTION | Genetics | Eukaryotes | Disease | Ribonucleic acid--RNA | Binding sites | Proteins | Medicine | Mutations | Splicing | Ribonucleic acids | Mathematical models | Gene sequencing
Journal Article
Biomedicine & Pharmacotherapy, ISSN 0753-3322, 06/2019, Volume 114, pp. 108856 - 108856
Patient survival time generally reflects the tumor progression and represents a key clinical parameter. In this study, we aimed to comprehensively characterize... 
Hepatocellular carcinoma | Biomarker | Prognosis | Copy number variation | Proteomics | Index Medicus
Journal Article
Cell Stem Cell, ISSN 1934-5909, 2010, Volume 7, Issue 4, pp. 521 - 531
Because of their somatic cell origin, human induced pluripotent stem cells (HiPSCs) are assumed to carry a normal diploid genome, and adaptive chromosomal... 
ANEUPLOIDY | IDENTIFY | ABNORMALITIES | REGIONS | GENE-EXPRESSION | LEUKEMIAS | COPY NUMBER VARIATION | COMPARATIVE GENOMIC HYBRIDIZATION | CULTURE | PROGRAM | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Aneuploidy | Gene Expression Profiling | Chromosome Aberrations - classification | Induced Pluripotent Stem Cells | Humans | Index Medicus
Journal Article
Nature, ISSN 0028-0836, 11/2014, Volume 515, Issue 7526, pp. 216 - 221
Journal Article
Journal Article
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