المؤلفون: Bonder, Marc Jan, Smail, Craig, Gloudemans, Michael J, Frésard, Laure, Jakubosky, David, D'Antonio, Matteo, Li, Xin, Ferraro, Nicole M, Carcamo-Orive, Ivan, Mirauta, Bogdan, Seaton, Daniel D, Cai, Na, Vakili, Dara, Horta, Danilo, Zhao, Chunli, Zastrow, Diane B, Bonner, Devon E, HipSci Consortium, iPSCORE consortium, Undiagnosed Diseases Network, PhLiPS consortium, Wheeler, Matthew T, Kilpinen, Helena, Knowles, Joshua W, Smith, Erin N, Frazer, Kelly A, Montgomery, Stephen B, Stegle, Oliver

المصدر: Nature genetics. 53(3)

مصطلحات موضوعية: HipSci Consortium, iPSCORE consortium, Undiagnosed Diseases Network, PhLiPS consortium, Cell Line, Humans, Bardet-Biedl Syndrome, Cerebellar Ataxia, Rare Diseases, Proteins, Calcium Channels, Sequence Analysis, RNA, DNA Methylation, Gene Expression, Regulatory Sequences, Nucleic Acid, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Genetic Variation, Induced Pluripotent Stem Cells, Whole Genome Sequencing, Stem Cell Research - Induced Pluripotent Stem Cell, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Human Genome, Stem Cell Research - Embryonic - Human, Regenerative Medicine, Genetics, Stem Cell Research - Induced Pluripotent Stem Cell - Non-Human, Stem Cell Research, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Generic health relevance, Developmental Biology, Biological Sciences, Medical and Health Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9rp1p30x

المؤلفون: Jakubosky, David, D'Antonio, Matteo, Bonder, Marc Jan, Smail, Craig, Donovan, Margaret KR, Young Greenwald, William W, Matsui, Hiroko, i2QTL Consortium, D'Antonio-Chronowska, Agnieszka, Stegle, Oliver, Smith, Erin N, Montgomery, Stephen B, DeBoever, Christopher, Frazer, Kelly A

المصدر: Nature communications. 11(1)

مصطلحات موضوعية: i2QTL Consortium, Cell Line, Humans, Microsatellite Repeats, Multifactorial Inheritance, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Genetic Variation, Genome-Wide Association Study, Genetics, Human Genome, Generic health relevance

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/70r233g6

المؤلفون: Jakubosky, David, Smith, Erin N, D'Antonio, Matteo, Jan Bonder, Marc, Young Greenwald, William W, D'Antonio-Chronowska, Agnieszka, Matsui, Hiroko, i2QTL Consortium, Stegle, Oliver, Montgomery, Stephen B, DeBoever, Christopher, Frazer, Kelly A

المصدر: Nature communications. 11(1)

مصطلحات موضوعية: i2QTL Consortium, Humans, Computational Biology, Microsatellite Repeats, Genotype, Haplotypes, Algorithms, High-Throughput Nucleotide Sequencing, Whole Genome Sequencing, Human Genome, Genetics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0xg9m5j5

المؤلفون: D'Antonio, Matteo, Reyna, Joaquin, Jakubosky, David, Donovan, Margaret Kr, Bonder, Marc-Jan, Matsui, Hiroko, Stegle, Oliver, Nariai, Naoki, D'Antonio-Chronowska, Agnieszka, Frazer, Kelly A

مصطلحات موضوعية: Humans, Cystic Fibrosis, Genetic Predisposition to Disease, HLA Antigens, Chromosome Mapping, Major Histocompatibility Complex, Haplotypes, Polymorphism, Single Nucleotide, Alleles, Quantitative Trait Loci, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, Genome-Wide Association Study, Young Adult, RNA-Seq, HLA types, computational biology, eQTLs, gene expression, genetics, genomics, human, major histocompatibility complex, systems biology, Biochemistry and Cell Biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/28g1s4d5

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المؤلفون: Greenwald, William W, Li, He, Benaglio, Paola, Jakubosky, David, Matsui, Hiroko, Schmitt, Anthony, Selvaraj, Siddarth, D'Antonio, Matteo, D'Antonio-Chronowska, Agnieszka, Smith, Erin N, Frazer, Kelly A

المصدر: Nature communications. 10(1)

مصطلحات موضوعية: Cell Line, Chromatin, Myocytes, Cardiac, Humans, Histones, DNA, Gene Expression Regulation, Nucleic Acid Conformation, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Adolescent, Adult, Aged, Middle Aged, Female, Male, Young Adult, Induced Pluripotent Stem Cells, Whole Genome Sequencing

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3dp7j3pg

المؤلفون: D’Antonio, Matteo, Benaglio, Paola, Jakubosky, David, Greenwald, William W, Matsui, Hiroko, Donovan, Margaret KR, Li, He, Smith, Erin N, D’Antonio-Chronowska, Agnieszka, Frazer, Kelly A

المصدر: Cell Reports. 24(4)

مصطلحات موضوعية: Stem Cell Research, Genetics, Stem Cell Research - Induced Pluripotent Stem Cell, Biotechnology, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Stem Cell Research - Induced Pluripotent Stem Cell - Non-Human, Human Genome, Regenerative Medicine, Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, Good Health and Well Being, Cell Differentiation, Cells, Cultured, Cellular Reprogramming, Humans, Induced Pluripotent Stem Cells, Mutation, Mutation Rate, RNA-seq, UV damage, epigenome, iPSCs, somatic mutations, stem cells, sublonal mutations, whole genome sequencing, Biochemistry and Cell Biology, Medical Physiology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6vn0s2mw

المؤلفون: Gustafson, Kevin, Duncan, Jacque L, Biswas, Pooja, Soto-Hermida, Angel, Matsui, Hiroko, Jakubosky, David, Suk, John, Telenti, Amalio, Frazer, Kelly A, Ayyagari, Radha

المصدر: Genes. 8(10)

مصطلحات موضوعية: na, Biotechnology, Eye Disease and Disorders of Vision, Human Genome, Neurosciences, Genetics, Eye

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0kg7j76r

المؤلفون: Gustafson, Kevin, Duncan, Jacque L, Biswas, Pooja, Soto-Hermida, Angel, Matsui, Hiroko, Jakubosky, David, Suk, John, Telenti, Amalio, Frazer, Kelly A, Ayyagari, Radha

المصدر: Genes. 8(9)

مصطلحات موضوعية: genetics, retina, retinitis pigmentosa, Rare Diseases, Biotechnology, Clinical Research, Eye Disease and Disorders of Vision, Human Genome, Neurosciences, Genetics, 2.1 Biological and endogenous factors, Eye

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/27c2m5j0

المؤلفون: DeBoever, Christopher, Li, He, Jakubosky, David, Benaglio, Paola, Reyna, Joaquin, Olson, Katrina M, Huang, Hui, Biggs, William, Sandoval, Efren, D’Antonio, Matteo, Jepsen, Kristen, Matsui, Hiroko, Arias, Angelo, Ren, Bing, Nariai, Naoki, Smith, Erin N, D’Antonio-Chronowska, Agnieszka, Farley, Emma K, Frazer, Kelly A

المصدر: Cell Stem Cell. 20(4)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Biotechnology, Stem Cell Research, Human Genome, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Stem Cell Research - Embryonic - Human, Stem Cell Research - Induced Pluripotent Stem Cell - Non-Human, Stem Cell Research - Induced Pluripotent Stem Cell, Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, Binding Sites, Cellular Reprogramming, Chromosomes, Human, X, DNA Copy Number Variations, Gene Expression Profiling, Gene Expression Regulation, Genetic Heterogeneity, Genetic Variation, Humans, Induced Pluripotent Stem Cells, Molecular Sequence Annotation, Quantitative Trait Loci, Regulatory Sequences, Nucleic Acid, Transcription Factors, eQTL, expression quantitative trait loci, gene expression, regulation of gene expression, stem cell gene expression, stem cell genetics, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2jh2t7td