Nature Genetics, ISSN 1061-4036, 01/2019, Volume 51, Issue 1, pp. 76 - 87
To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome sequencing of 1,439 cases and 720 controls, imputed...
Genetics | Journal Article | COLON-CANCER | ORGAN SIZE | METAANALYSIS | LYSOPHOSPHATIDIC ACID | GENETICS & HEREDITY | SUSCEPTIBILITY LOCI | QUALITY-CONTROL | MUTATIONS | EXPRESSION | GENOME-WIDE ASSOCIATION | IDENTIFIES 6 | Genetic Predisposition to Disease - genetics | Colorectal Neoplasms - genetics | Humans | Middle Aged | Risk Factors | Genotype | Male | RNA, Long Noncoding - genetics | Signal Transduction - genetics | Case-Control Studies | Polymorphism, Single Nucleotide - genetics | Female | Aged | Genome-Wide Association Study - methods | Genetic aspects | Research | Genetic variation | Risk factors | Colorectal cancer | Haplotypes | Immune response | Nucleotide sequence | Colorectal carcinoma | Health risks | Risk | Systematic review | Genomes | Drug development | Gene expression | Epidemiology | Gene sequencing | Meta-analysis | Consortia | Yes-associated protein | Studies | Signaling | Hedgehog protein | Gastroenterology | Heritability | Mutation | Cancer | Life Sciences | Santé publique et épidémiologie | Basic Medicine | Medical Genetics | Medicinsk genetik | Clinical Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Cancer and Oncology | Klinisk medicin | Cancer och onkologi
Genetics | Journal Article | COLON-CANCER | ORGAN SIZE | METAANALYSIS | LYSOPHOSPHATIDIC ACID | GENETICS & HEREDITY | SUSCEPTIBILITY LOCI | QUALITY-CONTROL | MUTATIONS | EXPRESSION | GENOME-WIDE ASSOCIATION | IDENTIFIES 6 | Genetic Predisposition to Disease - genetics | Colorectal Neoplasms - genetics | Humans | Middle Aged | Risk Factors | Genotype | Male | RNA, Long Noncoding - genetics | Signal Transduction - genetics | Case-Control Studies | Polymorphism, Single Nucleotide - genetics | Female | Aged | Genome-Wide Association Study - methods | Genetic aspects | Research | Genetic variation | Risk factors | Colorectal cancer | Haplotypes | Immune response | Nucleotide sequence | Colorectal carcinoma | Health risks | Risk | Systematic review | Genomes | Drug development | Gene expression | Epidemiology | Gene sequencing | Meta-analysis | Consortia | Yes-associated protein | Studies | Signaling | Hedgehog protein | Gastroenterology | Heritability | Mutation | Cancer | Life Sciences | Santé publique et épidémiologie | Basic Medicine | Medical Genetics | Medicinsk genetik | Clinical Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Cancer and Oncology | Klinisk medicin | Cancer och onkologi
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2012, Volume 44, Issue 6, pp. 651 - 658
In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-wide association studies, we observed large chromosomal abnormalities in a...
MAFFUCCI SYNDROME | OLLIER DISEASE | ANEUPLOIDY | SUSCEPTIBILITY | GENETICS & HEREDITY | CHRONIC LYMPHOCYTIC-LEUKEMIA | MECHANISMS | MUTATIONS | GENOMIC IMBALANCES | ABERRATIONS | ASSOCIATION | Aging - genetics | Neoplasms - genetics | Humans | Middle Aged | Chromosome Aberrations | Female | Male | Mosaicism | Risk | Aged | Aging | Physiological aspects | Genetic aspects | Research | Cancer | Genotype & phenotype | Occupational safety | Bladder | Genomes | Mutation | Genetic testing | Chromosomes | Blood | Methods | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
MAFFUCCI SYNDROME | OLLIER DISEASE | ANEUPLOIDY | SUSCEPTIBILITY | GENETICS & HEREDITY | CHRONIC LYMPHOCYTIC-LEUKEMIA | MECHANISMS | MUTATIONS | GENOMIC IMBALANCES | ABERRATIONS | ASSOCIATION | Aging - genetics | Neoplasms - genetics | Humans | Middle Aged | Chromosome Aberrations | Female | Male | Mosaicism | Risk | Aged | Aging | Physiological aspects | Genetic aspects | Research | Cancer | Genotype & phenotype | Occupational safety | Bladder | Genomes | Mutation | Genetic testing | Chromosomes | Blood | Methods | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
Cancer Epidemiology Biomarkers and Prevention, ISSN 1055-9965, 01/2017, Volume 26, Issue 1, pp. 126 - 135
Background: Common cancers develop through a multistep process often including inherited susceptibility. Collaboration among multiple institutions, and funding...
BREAST-CANCER | LUNG | PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH | VARIANTS | RARE | ONCOLOGY | ENVIRONMENT INTERACTIONS | PROSTATE-CANCER | SUSCEPTIBILITY LOCI | RISK | MENDELIAN RANDOMIZATION | GENOME-WIDE ASSOCIATION | Causation | Health risks | Principal components analysis | Genomes | Pharmacology | Mapping | Single-nucleotide polymorphism | Environmental impact | Loci | Ethnic factors | Impact analysis | Ecological risk assessment | Consortia | Genetic variance | Genotyping | Etiology | Risk assessment | Quality control | Tagging | Biomarkers | Gene mapping | Cancer | Ancestry | Epistasis | Genetic Susceptibility | Genetic Epidemiology
BREAST-CANCER | LUNG | PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH | VARIANTS | RARE | ONCOLOGY | ENVIRONMENT INTERACTIONS | PROSTATE-CANCER | SUSCEPTIBILITY LOCI | RISK | MENDELIAN RANDOMIZATION | GENOME-WIDE ASSOCIATION | Causation | Health risks | Principal components analysis | Genomes | Pharmacology | Mapping | Single-nucleotide polymorphism | Environmental impact | Loci | Ethnic factors | Impact analysis | Ecological risk assessment | Consortia | Genetic variance | Genotyping | Etiology | Risk assessment | Quality control | Tagging | Biomarkers | Gene mapping | Cancer | Ancestry | Epistasis | Genetic Susceptibility | Genetic Epidemiology
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2013, Volume 45, Issue 6, pp. 690 - 696
Genome-wide association studies (GWAS) have identified 36 loci associated with body mass index (BMI), predominantly in populations of European ancestry. We...
COMMON VARIANTS | GENETIC-VARIATION | MULTILOCUS GENOTYPE DATA | POSITIVE SELECTION | FTO GENE | GENETICS & HEREDITY | SEQUENCE VARIANTS | RISK | ADULT OBESITY | GENOME-WIDE ASSOCIATION | HUMAN-POPULATIONS | Body Mass Index | Genetic Predisposition to Disease | Genome-Wide Association Study | Gene Frequency | Humans | Obesity - ethnology | African Americans - genetics | Polymorphism, Single Nucleotide | Genetic Loci | Obesity - genetics | Case-Control Studies | Linkage Disequilibrium | Quantitative trait loci | Body mass index | Demographic aspects | Physiological aspects | Genetic aspects | Research | Single nucleotide polymorphisms | Identification and classification | Women | Genealogy | African Americans | Genetics | Statistical methods | Genomes | Meta-analysis
COMMON VARIANTS | GENETIC-VARIATION | MULTILOCUS GENOTYPE DATA | POSITIVE SELECTION | FTO GENE | GENETICS & HEREDITY | SEQUENCE VARIANTS | RISK | ADULT OBESITY | GENOME-WIDE ASSOCIATION | HUMAN-POPULATIONS | Body Mass Index | Genetic Predisposition to Disease | Genome-Wide Association Study | Gene Frequency | Humans | Obesity - ethnology | African Americans - genetics | Polymorphism, Single Nucleotide | Genetic Loci | Obesity - genetics | Case-Control Studies | Linkage Disequilibrium | Quantitative trait loci | Body mass index | Demographic aspects | Physiological aspects | Genetic aspects | Research | Single nucleotide polymorphisms | Identification and classification | Women | Genealogy | African Americans | Genetics | Statistical methods | Genomes | Meta-analysis
Journal Article
BMC Genomics, ISSN 1471-2164, 10/2008, Volume 9, Issue 1, pp. 516 - 516
Background: By assaying hundreds of thousands of single nucleotide polymorphisms, genome wide association studies (GWAS) allow for a powerful, unbiased review...
RECOMBINATION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | HAPLOTYPE BLOCKS | GENETICS & HEREDITY | LOCI | LINKAGE | COMPLEX TRAITS | MAP | HISTORY | Polymorphism, Single Nucleotide | Algorithms | Genome, Human | Genome-Wide Association Study - standards | Humans | Linkage Disequilibrium | P values | Study and teaching | Genotype | Usage | Genomes | Research
RECOMBINATION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | HAPLOTYPE BLOCKS | GENETICS & HEREDITY | LOCI | LINKAGE | COMPLEX TRAITS | MAP | HISTORY | Polymorphism, Single Nucleotide | Algorithms | Genome, Human | Genome-Wide Association Study - standards | Humans | Linkage Disequilibrium | P values | Study and teaching | Genotype | Usage | Genomes | Research
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 02/2007, Volume 44, Issue 2, pp. 99 - 106
Background: The major factors individually reported to be associated with an increased frequency of CDKN2A mutations are increased number of patients with...
POPULATION-BASED SAMPLE | P16 | CDK4 | MULTIPLE PRIMARY MELANOMAS | CUTANEOUS MELANOMA | PANCREATIC-CANCER | GENETICS & HEREDITY | RISK | MALIGNANT-MELANOMA | KINDREDS | DYSPLASTIC NEVUS SYNDROME | Melanoma - epidemiology | Humans | Cyclin-Dependent Kinase Inhibitor p16 - genetics | Europe - epidemiology | Male | Skin Neoplasms - epidemiology | Australia - epidemiology | Incidence | Genetic Variation | Melanoma - genetics | Skin Neoplasms - genetics | Germ-Line Mutation | Female | North America - epidemiology | Demographic aspects | Gene mutations | Melanoma | Genetic aspects | Research | Health aspects | Risk factors | Studies | Pancreatic cancer | Mutation | Patients | Age | Skin cancer | Tumors | Logistics | multiple primary melanomas | melanoma | pancreatic cancer | CDKN2A | Original | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
POPULATION-BASED SAMPLE | P16 | CDK4 | MULTIPLE PRIMARY MELANOMAS | CUTANEOUS MELANOMA | PANCREATIC-CANCER | GENETICS & HEREDITY | RISK | MALIGNANT-MELANOMA | KINDREDS | DYSPLASTIC NEVUS SYNDROME | Melanoma - epidemiology | Humans | Cyclin-Dependent Kinase Inhibitor p16 - genetics | Europe - epidemiology | Male | Skin Neoplasms - epidemiology | Australia - epidemiology | Incidence | Genetic Variation | Melanoma - genetics | Skin Neoplasms - genetics | Germ-Line Mutation | Female | North America - epidemiology | Demographic aspects | Gene mutations | Melanoma | Genetic aspects | Research | Health aspects | Risk factors | Studies | Pancreatic cancer | Mutation | Patients | Age | Skin cancer | Tumors | Logistics | multiple primary melanomas | melanoma | pancreatic cancer | CDKN2A | Original | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
PLOS ONE, ISSN 1932-6203, 05/2019, Volume 14, Issue 5, p. e0216050
Formalin-fixed paraffin-embedded (FFPE) tissues are among the most widely available clinical specimens. Their potential utility as a source of RNA for...
MULTIDISCIPLINARY SCIENCES | SEQ | RNA sequencing | Usage | Genetic aspects | Research | Formaldehyde | Ovarian cancer | Repositories | RNA | Laboratories | Genomics | Population studies | Genomes | Tissue analysis | Paraffin | Tissues | Epidemiology | Gene sequencing | Deoxyribonucleic acid | Population | Bioinformatics | Paraffins | Medical research | Ribonucleic acid | Gene expression | Contamination | Studies | Storage conditions | DNA | Morphology | Quality assessment | Methods | Cancer
MULTIDISCIPLINARY SCIENCES | SEQ | RNA sequencing | Usage | Genetic aspects | Research | Formaldehyde | Ovarian cancer | Repositories | RNA | Laboratories | Genomics | Population studies | Genomes | Tissue analysis | Paraffin | Tissues | Epidemiology | Gene sequencing | Deoxyribonucleic acid | Population | Bioinformatics | Paraffins | Medical research | Ribonucleic acid | Gene expression | Contamination | Studies | Storage conditions | DNA | Morphology | Quality assessment | Methods | Cancer
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2008, Volume 40, Issue 7, pp. 838 - 840
We conducted a genome-wide association pooling study for cutaneous melanoma and performed validation in samples totaling 2,019 cases and 2,105 controls. Using...
POPULATION | GENE | ASIP | GENETICS & HEREDITY | PHENOTYPE | RISK | POLYMORPHISM | ASSOCIATION | PIGMENTATION | ARRAYS | Genetic Predisposition to Disease | Melanoma - genetics | Humans | Skin Neoplasms - genetics | Age of Onset | Adult | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 20 | Odds Ratio | Case-Control Studies | Linkage Disequilibrium | Genetics | Genes | Cancer | Independent sample | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Cancer and Oncology | Medicin och hälsovetenskap | Cancer och onkologi
POPULATION | GENE | ASIP | GENETICS & HEREDITY | PHENOTYPE | RISK | POLYMORPHISM | ASSOCIATION | PIGMENTATION | ARRAYS | Genetic Predisposition to Disease | Melanoma - genetics | Humans | Skin Neoplasms - genetics | Age of Onset | Adult | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 20 | Odds Ratio | Case-Control Studies | Linkage Disequilibrium | Genetics | Genes | Cancer | Independent sample | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Cancer and Oncology | Medicin och hälsovetenskap | Cancer och onkologi
Journal Article
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Full Text
Robustness of next generation sequencing on older formalin-fixed paraffin-embedded tissue
PLoS ONE, ISSN 1932-6203, 07/2015, Volume 10, Issue 7, p. e0127353
Next Generation Sequencing (NGS) technologies are used to detect somatic mutations in tumors and study germ line variation. Most NGS studies use DNA isolated...
MULTIDISCIPLINARY SCIENCES | FFPE TUMOR-TISSUES | SAMPLES | IDENTIFICATION | FROZEN | CANCER | CONFIDENCE | CARCINOMA | SOMATIC MUTATIONS | SEER Program | Adenocarcinoma - pathology | Formaldehyde - chemistry | Humans | Ovarian Neoplasms - pathology | DNA, Neoplasm - chemistry | Ovarian Neoplasms - genetics | Paraffin Embedding | Specimen Handling | Female | Adenocarcinoma - genetics | DNA, Neoplasm - genetics | Tissue Fixation | High-Throughput Nucleotide Sequencing - methods | Formaldehyde | Repositories | Biomedical research | Laboratories | Genomics | Population studies | Genomes | Paraffin | Data mining | Tissues | Epidemiology | Cancer therapies | Gene sequencing | Consortia | Population | Deoxyribonucleic acid--DNA | Medical research | Feasibility studies | Data processing | Studies | Pathology | Storage conditions | Mutation | Quality assessment | Prostate cancer | Tumors | DNA sequencing | Cancer | Deoxyribonucleic acid | DNA
MULTIDISCIPLINARY SCIENCES | FFPE TUMOR-TISSUES | SAMPLES | IDENTIFICATION | FROZEN | CANCER | CONFIDENCE | CARCINOMA | SOMATIC MUTATIONS | SEER Program | Adenocarcinoma - pathology | Formaldehyde - chemistry | Humans | Ovarian Neoplasms - pathology | DNA, Neoplasm - chemistry | Ovarian Neoplasms - genetics | Paraffin Embedding | Specimen Handling | Female | Adenocarcinoma - genetics | DNA, Neoplasm - genetics | Tissue Fixation | High-Throughput Nucleotide Sequencing - methods | Formaldehyde | Repositories | Biomedical research | Laboratories | Genomics | Population studies | Genomes | Paraffin | Data mining | Tissues | Epidemiology | Cancer therapies | Gene sequencing | Consortia | Population | Deoxyribonucleic acid--DNA | Medical research | Feasibility studies | Data processing | Studies | Pathology | Storage conditions | Mutation | Quality assessment | Prostate cancer | Tumors | DNA sequencing | Cancer | Deoxyribonucleic acid | DNA
Journal Article