Richard A. Gibbs
- Integrating common and rare genetic variation in diverse human populations
2010/08/31 by David Altshuler, S. F. Schaffner, Stacey B. Gabriel +57 · 42 citations
Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genomics and Phylogenetic Studies #Genomics and Rare Diseases
- Comparative and demographic analysis of orang-utan genomes
2011/01/25 by Devin P. Locke, LaDeana W. Hillier, Wesley C. Warren +97 · 1 voice · 16 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
- 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 · 12 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #Evolution and Genetic Dynamics #Genomic variations and chromosomal abnormalities
- 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 · 16 citations
Biochemistry, Genetics and Molecular Biology · #Cancer Genomics and Diagnostics #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases
- WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
2013/05/08 by Christine M. Laine, Christine Lainé, Kyu Sang Joeng +24 · 30 citations
Biochemistry, Genetics and Molecular Biology · #Connective tissue disorders research #Wnt/β-catenin signaling in development and cancer #Cancer-related gene regulation
- 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 · 4 citations
Biochemistry, Genetics and Molecular Biology · Agricultural and Biological Sciences · #Genomics and Phylogenetic Studies #RNA and protein synthesis mechanisms #Chromosomal and Genetic Variations
- 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
- 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 · 3 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
- The complete genome of an individual by massively parallel DNA sequencing
2008/04/01 by David A. Wheeler, Maithreyan Srinivasan, Michael Egholm +24 · 4 citations
Biochemistry, Genetics and Molecular Biology · Agricultural and Biological Sciences · #Genomics and Phylogenetic Studies #Chromosomal and Genetic Variations #Genomic variations and chromosomal abnormalities
- 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 · 2 citations
Neuroscience · Medicine · Biochemistry, Genetics and Molecular Biology · #Hereditary Neurological Disorders #Peripheral Neuropathies and Disorders #Genomics and Rare Diseases
- 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 · 2 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Cancer Cells and Metastasis #Cancer Genomics and Diagnostics #Pancreatic and Hepatic Oncology Research
- 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
- Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families
1990/06/01 by Richard A. Gibbs, Phi-Nga Nguyen, P N Nguyen +4 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Biochemical and Molecular Research #Blood disorders and treatments #Pneumocystis jirovecii pneumonia detection and treatment
- GREGoR: Accelerating Genomics for Rare Diseases
2024/12/18 by Moez Dawood, Dawood, Moez, Ben Heavner +64 · 3 voices
Biochemistry, Genetics and Molecular Biology · #q-bio.OT