PLoS ONE, ISSN 1932-6203, 05/2012, Volume 7, Issue 5, p. e35202
Many conserved noncoding sequences function as transcriptional enhancers that regulate gene expression. Here, we report that protein-coding DNA also frequently...
HUMAN GENOME | ZEBRAFISH HEART | MAMMALIAN GENES | NONCODING RNAS | CONSERVED ELEMENTS | MULTIDISCIPLINARY SCIENCES | IN-VIVO | C-MYC | BINDING-SITES | PREDICTIVE CHROMATIN SIGNATURES | REGULATORY ELEMENTS | Animals | Vertebrates - genetics | Humans | Exons - genetics | Genes, Developmental - genetics | Zebrafish | Enhancer Elements, Genetic - genetics | Noncoding DNA | Genetic research | Genetic aspects | Genetic transcription | Genes | Bioengineering | Transcription factors | Transcription | Exons | Genomes | Gene expression | Embryos | Experiments | Data bases | Gene sequencing | Voice recognition | Proteins | Studies | Vertebrates | Enhancers | Conserved sequence | Automatic control | Life sciences | Deoxyribonucleic acid--DNA | Cellular telephones | DNA | Histones | Promoters | Deoxyribonucleic acid
HUMAN GENOME | ZEBRAFISH HEART | MAMMALIAN GENES | NONCODING RNAS | CONSERVED ELEMENTS | MULTIDISCIPLINARY SCIENCES | IN-VIVO | C-MYC | BINDING-SITES | PREDICTIVE CHROMATIN SIGNATURES | REGULATORY ELEMENTS | Animals | Vertebrates - genetics | Humans | Exons - genetics | Genes, Developmental - genetics | Zebrafish | Enhancer Elements, Genetic - genetics | Noncoding DNA | Genetic research | Genetic aspects | Genetic transcription | Genes | Bioengineering | Transcription factors | Transcription | Exons | Genomes | Gene expression | Embryos | Experiments | Data bases | Gene sequencing | Voice recognition | Proteins | Studies | Vertebrates | Enhancers | Conserved sequence | Automatic control | Life sciences | Deoxyribonucleic acid--DNA | Cellular telephones | DNA | Histones | Promoters | Deoxyribonucleic acid
Journal Article
Genetics in Medicine, ISSN 1098-3600, 11/2019
Journal Article
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Full Text
Abstract 3301: Uncovering novel radiation sensitivity syndromes through exome sequencing
Cancer Research, ISSN 0008-5472, 08/2015, Volume 75, Issue 15 Supplement, pp. 3301 - 3301
Journal Article
Cell, ISSN 0092-8674, 04/2018, Volume 173, Issue 2, pp. 355 - 370.e14
We conducted the largest investigation of predisposition variants in cancer to date, discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389...
cancer predisposition | LOH | variant pathogenicity | germline and somatic genomes | GENOMICS | BIOCHEMISTRY & MOLECULAR BIOLOGY | KINASE | GUIDELINES | SITES | RISK | MUTATIONS | BRCA1 | DISCOVERY | CELL BIOLOGY | Genetic Predisposition to Disease | Gene Frequency | Humans | Databases, Genetic | Genotype | Mutation, Missense | DNA Copy Number Variations | Loss of Heterozygosity - genetics | Proto-Oncogene Proteins c-met - genetics | Neoplasms - genetics | Gene Deletion | Tumor Suppressor Proteins - genetics | Germ-Line Mutation | Germ Cells - cytology | Polymorphism, Single Nucleotide | Germ Cells - metabolism | Neoplasms - pathology | Proto-Oncogene Proteins c-ret - genetics | Cancer predisposition
cancer predisposition | LOH | variant pathogenicity | germline and somatic genomes | GENOMICS | BIOCHEMISTRY & MOLECULAR BIOLOGY | KINASE | GUIDELINES | SITES | RISK | MUTATIONS | BRCA1 | DISCOVERY | CELL BIOLOGY | Genetic Predisposition to Disease | Gene Frequency | Humans | Databases, Genetic | Genotype | Mutation, Missense | DNA Copy Number Variations | Loss of Heterozygosity - genetics | Proto-Oncogene Proteins c-met - genetics | Neoplasms - genetics | Gene Deletion | Tumor Suppressor Proteins - genetics | Germ-Line Mutation | Germ Cells - cytology | Polymorphism, Single Nucleotide | Germ Cells - metabolism | Neoplasms - pathology | Proto-Oncogene Proteins c-ret - genetics | Cancer predisposition
Journal Article
BMC Genomics, ISSN 1471-2164, 04/2015, Volume 16, Issue 1, p. 286
Background: Characterizing large genomic variants is essential to expanding the research and clinical applications of genome sequencing. While multiple data...
Long-read sequencing | Structural variation | SV software | VARIANTS | MECHANISMS | REARRANGEMENTS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | SEQUENCE | DISEASE | GENETICS & HEREDITY | MUTATIONS | HEALTH | COPY NUMBER VARIATION | PAIRED-END | DELETIONS | Genomic Structural Variation | Diploidy | Humans | Computational Biology | Databases, Genetic | Software | Genome, Human | Sequence Analysis, DNA - methods | Instrument industry | Nucleotide sequencing | Genetic variation | DNA sequencing | Political aspects
Long-read sequencing | Structural variation | SV software | VARIANTS | MECHANISMS | REARRANGEMENTS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | SEQUENCE | DISEASE | GENETICS & HEREDITY | MUTATIONS | HEALTH | COPY NUMBER VARIATION | PAIRED-END | DELETIONS | Genomic Structural Variation | Diploidy | Humans | Computational Biology | Databases, Genetic | Software | Genome, Human | Sequence Analysis, DNA - methods | Instrument industry | Nucleotide sequencing | Genetic variation | DNA sequencing | Political aspects
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The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics
Human Mutation, ISSN 1059-7794, 11/2018, Volume 39, Issue 11, pp. 1713 - 1720
The Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group highlights the need to develop guidance on race, ethnicity, and ancestry (REA) data...
clinical genomics | diversity | ancestry | ethnicity | race | populations | POPULATION | VARIANTS | BEDSIDE | AMERICANS | HUMAN-GENETICS RESEARCH | RACIAL/ETHNIC DIFFERENCES | MEDICINE | CATEGORIES | GENETICS & HEREDITY | ASSOCIATION | Ethnic Groups | Humans | Alleles | Genetic Variation - genetics | Mutation | Genomics - methods | Genetic Testing - methods | Genomics | Ethnicity | Laboratories | Data collection | Genomes | Minority & ethnic groups | Population genetics | Clinical Genomics | Ancestry | Populations | Race | Diversity
clinical genomics | diversity | ancestry | ethnicity | race | populations | POPULATION | VARIANTS | BEDSIDE | AMERICANS | HUMAN-GENETICS RESEARCH | RACIAL/ETHNIC DIFFERENCES | MEDICINE | CATEGORIES | GENETICS & HEREDITY | ASSOCIATION | Ethnic Groups | Humans | Alleles | Genetic Variation - genetics | Mutation | Genomics - methods | Genetic Testing - methods | Genomics | Ethnicity | Laboratories | Data collection | Genomes | Minority & ethnic groups | Population genetics | Clinical Genomics | Ancestry | Populations | Race | Diversity
Journal Article
Human Mutation, ISSN 1059-7794, 11/2018, Volume 39, Issue 11, pp. 1542 - 1552
In its landmark paper about Standards and Guidelines for the Interpretation of Sequence Variants, the American College of Medical Genetics and Genomics (ACMG),...
germline | hotspot | PM1 | PP4 | signature | variant interpretation | somatic | GUIDELINES | TUMOR | SEQUENCE VARIANTS | BRCA1 | GENOMICS | JOINT-CONSENSUS-RECOMMENDATION | DNA | MUTATION | GENETICS & HEREDITY | REPAIR DEFECTS | ASSOCIATION | Genetic Predisposition to Disease - genetics | Genomics | Humans | Alleles | Computational Biology | Genetic Variation - genetics | Germ-Line Mutation - genetics | Mutation - genetics | Genetic Testing - methods | Genome, Human - genetics | RNA sequencing | Genes | Genetic research | Genetic aspects | Children | Health aspects | Cancer | Pathogenicity | Splicing | AMP | Loss of heterozygosity | Ribonucleic acid--RNA | Heterozygosity | Somatic
germline | hotspot | PM1 | PP4 | signature | variant interpretation | somatic | GUIDELINES | TUMOR | SEQUENCE VARIANTS | BRCA1 | GENOMICS | JOINT-CONSENSUS-RECOMMENDATION | DNA | MUTATION | GENETICS & HEREDITY | REPAIR DEFECTS | ASSOCIATION | Genetic Predisposition to Disease - genetics | Genomics | Humans | Alleles | Computational Biology | Genetic Variation - genetics | Germ-Line Mutation - genetics | Mutation - genetics | Genetic Testing - methods | Genome, Human - genetics | RNA sequencing | Genes | Genetic research | Genetic aspects | Children | Health aspects | Cancer | Pathogenicity | Splicing | AMP | Loss of heterozygosity | Ribonucleic acid--RNA | Heterozygosity | Somatic
Journal Article
Genome Medicine, ISSN 1756-994X, 11/2016, Volume 8, Issue 1, pp. 117 - 9
Background: To truly achieve personalized medicine in oncology, it is critical to catalog and curate cancer sequence variants for their clinical relevance. The...
Somatic variant curation | Somatic variant interpretation | Cancer genomics | Data standard | INFORMATION | STANDARDS | TUMOR | MEDICINE | GENOME | CHALLENGES | DECISION-SUPPORT | PLATFORM | ONCOLOGY | MICROARRAY EXPERIMENT MIAME | GENETICS & HEREDITY | Genetic Variation | Algorithms | Neoplasms - genetics | Data Curation - standards | Gene Frequency | Humans | Databases, Genetic | Precision Medicine | Medical care | Genetic aspects | Research | Genomics | Quality management | Cancer | Datasets | Working groups | Laboratories | Clinical trials | Genomes | Gene expression | Cancer therapies | Data bases
Somatic variant curation | Somatic variant interpretation | Cancer genomics | Data standard | INFORMATION | STANDARDS | TUMOR | MEDICINE | GENOME | CHALLENGES | DECISION-SUPPORT | PLATFORM | ONCOLOGY | MICROARRAY EXPERIMENT MIAME | GENETICS & HEREDITY | Genetic Variation | Algorithms | Neoplasms - genetics | Data Curation - standards | Gene Frequency | Humans | Databases, Genetic | Precision Medicine | Medical care | Genetic aspects | Research | Genomics | Quality management | Cancer | Datasets | Working groups | Laboratories | Clinical trials | Genomes | Gene expression | Cancer therapies | Data bases
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 7, pp. 1497 - 1506
Purpose: Several genes on hereditary breast and ovarian cancer susceptibility test panels have not been systematically examined for strength of association...
hereditary breast and ovarian cancer | classification | ClinGen | gene validity | gene test panels | ASSOCIATIONS | NEOPLASMS | TUMOR | WOMEN | GERMLINE RECQL MUTATIONS | INCREASED RISK | PREDISPOSITION | GENETICS & HEREDITY | NEUROFIBROMATOSIS TYPE-1
hereditary breast and ovarian cancer | classification | ClinGen | gene validity | gene test panels | ASSOCIATIONS | NEOPLASMS | TUMOR | WOMEN | GERMLINE RECQL MUTATIONS | INCREASED RISK | PREDISPOSITION | GENETICS & HEREDITY | NEUROFIBROMATOSIS TYPE-1
Journal Article
Human Mutation, ISSN 1059-7794, 11/2018, Volume 39, Issue 11, pp. 1721 - 1732
Harmonization of cancer variant representation, efficient communication, and free distribution of clinical variantāassociated knowledge are central problems...
CIViC | cancer | ClinGen | curation | ClinVar | TESTS | GUIDELINES | SEQUENCE VARIANTS | GENOME | JOINT-CONSENSUS-RECOMMENDATION | ONCOLOGY | GENETICS | COLLEGE | GENETICS & HEREDITY | ASSOCIATION | Genetic Testing | Neoplasms - genetics | Genomics | Humans | Databases, Genetic | Genetic Variation - genetics | High-Throughput Nucleotide Sequencing | Software | Genome, Human - genetics | Crowdsourcing | Cancer | Data processing | Genomes | AMP | Gene mapping | Databases | Special Issue
CIViC | cancer | ClinGen | curation | ClinVar | TESTS | GUIDELINES | SEQUENCE VARIANTS | GENOME | JOINT-CONSENSUS-RECOMMENDATION | ONCOLOGY | GENETICS | COLLEGE | GENETICS & HEREDITY | ASSOCIATION | Genetic Testing | Neoplasms - genetics | Genomics | Humans | Databases, Genetic | Genetic Variation - genetics | High-Throughput Nucleotide Sequencing | Software | Genome, Human - genetics | Crowdsourcing | Cancer | Data processing | Genomes | AMP | Gene mapping | Databases | Special Issue
Journal Article