Donna M. Muzny
- Integrating common and rare genetic variation in diverse human populations
2010/08/31 by David Altshuler, S. F. Schaffner, Stacey B. Gabriel +57 · 70 citations
Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genomics and Phylogenetic Studies #Genomics and Rare Diseases
- A global reference for human genetic variation
2015/09/29 by Corresponding authors, Adam Auton, Richard Durbin +90 · 64 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genomics and Rare Diseases #Genomics and Phylogenetic Studies
- Comparative and demographic analysis of orang-utan genomes
2011/01/25 by Devin P. Locke, LaDeana W. Hillier, Wesley C. Warren +97 · 1 voice · 21 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · #Chromosomal and Genetic Variations #Genomics and Phylogenetic Studies #HIV Research and Treatment
- The complete genome of an individual by massively parallel DNA sequencing
2008/04/01 by David A. Wheeler, Maithreyan Srinivasan, Michael Egholm +24 · 21 citations
Biochemistry, Genetics and Molecular Biology · Agricultural and Biological Sciences · #Genomics and Phylogenetic Studies #Chromosomal and Genetic Variations #Genomic variations and chromosomal abnormalities
- Genomic data in the All of Us Research Program
2024/02/19 by Manuscript Writing Group, Alexander G. Bick, Ginger Metcalf +93 · 1 voice · 35 citations
Biochemistry, Genetics and Molecular Biology · #Cancer Genomics and Diagnostics #Genetic Associations and Epidemiology #Genomics and Rare Diseases
- The comparative genomics and complex population history ofPapiobaboons
2019/01/04 by Jeffrey Rogers, Muthuswamy Raveendran, R. Alan Harris +39 · 1 voice · 15 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #Evolution and Genetic Dynamics #Genomic variations and chromosomal abnormalities
- Mind the Gap: Upgrading Genomes with Pacific Biosciences RS Long-Read Sequencing Technology
2012/11/21 by Adam C. English, Stephen M. Richards, Yi Han +8 · 8 citations
Biochemistry, Genetics and Molecular Biology · Agricultural and Biological Sciences · #Genomics and Phylogenetic Studies #RNA and protein synthesis mechanisms #Chromosomal and Genetic Variations
- Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing
2020/02/05 by Ruibin Xi, Dhawal Jain, Youngsook L. Jung +1341 · 17 citations
Biochemistry, Genetics and Molecular Biology · #Cancer Genomics and Diagnostics #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases
- Complete Khoisan and Bantu genomes from southern Africa
2010/02/01 by Stephan C. Schuster, Webb Miller, Aakrosh Ratan +45 · 7 citations
Biochemistry, Genetics and Molecular Biology · Arts and Humanities · #Forensic and Genetic Research #Genetic diversity and population structure #Forensic Anthropology and Bioarchaeology Studies
- Hemimetabolous genomes reveal molecular basis of termite eusociality
2018/02/02 by Mark C. Harrison, Evelien Jongepier, Hugh M. Robertson +38 · 4 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Insect and Arachnid Ecology and Behavior #Insect and Pesticide Research #Plant and animal studies
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
2010/03/10 by James R. Lupski, Jeffrey G. Reid, Claudia Gonzaga‐Jauregui +19 · 6 citations
Neuroscience · Medicine · Biochemistry, Genetics and Molecular Biology · #Hereditary Neurological Disorders #Peripheral Neuropathies and Disorders #Genomics and Rare Diseases
- Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development
2011/08/19 by Marilyn B. Renfree, Anthony T. Papenfuss, Janine E. Deakin +97 · 6 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #Developmental Biology and Gene Regulation #Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Evolutionary and Biomedical Insights from the Rhesus Macaque Genome
2007/04/12 by Richard A. Gibbs, Jeffrey Rogers, Michael G. Katze +97 · 4 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · Neuroscience · #Biology #Chromosomal and Genetic Variations #Evolutionary biology #Gene #Genetics #Genome #Genomics and Phylogenetic Studies #Homo sapiens #Lineage (genetic) #Macaque #Machine Learning in Bioinformatics #Neuroscience #Nonhuman primate #Primate #Rhesus macaque
- Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes
2012/10/24 by Australian Pancreatic Cancer Genome Initiative, Andrew V. Biankin, Nicola Waddell +145 · 3 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Cancer Cells and Metastasis #Cancer Genomics and Diagnostics #Pancreatic and Hepatic Oncology Research
- Hemichordate genomes and deuterostome origins
2015/11/01 by Oleg Simakov, Takeshi Kawashima, Ferdinand Marlétaz +58 · 3 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · Environmental Science · #Echinoderm biology and ecology #Genomics and Phylogenetic Studies #Parasite Biology and Host Interactions #Deuterostome #Biology #Most recent common ancestor #Genome #Evolutionary biology #Synteny #Gene #Echinoderm #Ancestor #Phylogenetic tree #Vertebrate #Genetics #Ecology
- Demographic Histories and Patterns of Linkage Disequilibrium in Chinese and Indian Rhesus Macaques
2007/04/12 by Ryan D. Hernandez, Melissa J. Hubisz, David A. Wheeler +11 · 2 citations
Psychology · Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Primate Behavior and Ecology #Animal Behavior and Reproduction #Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities #Linkage disequilibrium #Rhesus macaque #Biology #Coalescent theory #Macaque #Genetics #Demographic history #Population #Evolutionary biology #Disequilibrium #Haplotype #Demography #Genetic variation #Gene #Phylogenetics #Allele
- The Toxicogenome of Hyalella azteca: A Model for Sediment Ecotoxicology and Evolutionary Toxicology
2018/04/10 by Helen C. Poynton, Simone Hasenbein, Joshua B. Benoit +47 · 2 citations
Environmental Science · Biochemistry, Genetics and Molecular Biology · #Environmental Toxicology and Ecotoxicology #Insect Resistance and Genetics #Pharmaceutical and Antibiotic Environmental Impacts
- Mapping and characterization of structural variation in 17,795 human genomes
2020/05/27 by Haley Abel, Haley J. Abel, David E. Larson +19 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genomics and Phylogenetic Studies #Genomics and Rare Diseases
- Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease
2009/05/01 by Dong-Chuan Guo, Christina L. Papke, Van Tran‐Fadulu +37 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Aortic Disease and Treatment Approaches #Cardiology #Connective tissue disorders research #Coronary artery disease #Disease #Internal medicine #Medicine #Moyamoya disease #Moyamoya disease diagnosis and treatment #Stroke (engine)
- High-depth African genomes inform human migration and health
2020/10/28 by Donna Muzny, Donna M. Muzny, Ginger Metcalf +78 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Environmental health #Evolutionary biology #Gene #Genetic Associations and Epidemiology #Genetics #Genome #Genomics and Rare Diseases #Geography #Global Health and Surgery #Human genome #Human health #Medicine