[go: up one dir, main page]
More Web Proxy on the site http://driver.im/

Sakaue et al., 2024 - Google Patents

Tissue-specific enhancer–gene maps from multimodal single-cell data identify causal disease alleles

Sakaue et al., 2024

View PDF
Document ID
14142076132166109055
Author
Sakaue S
Weinand K
Isaac S
Dey K
Jagadeesh K
Kanai M
Watts G
Zhu Z
Accelerating Medicines Partnership® RA/SLE Program and Network Albrecht Jennifer 14 Anolik Jennifer H. 14 Apruzzese William 15 Banda Nirmal 16 Barnas Jennifer L. 14 Bathon Joan M. 17 Ben-Artzi Ami 18 Boyce Brendan F. 19 Boyle David L. 20 Bridges S. Louis Jr 11 12 Bykerk Vivian P. 11 12 Campbell Debbie 14 Carr Hayley L. 21 Ceponis Arnold 20 Chicoine Adam 9 Cordle Andrew 22 Curtis Michelle 1 2 3 Deane Kevin D. 23 DiCarlo Edward 24 Dunn Patrick 25 26 Filer Andrew 21 Firestein Gary S. 20 Forbess Lindsy 21 Geraldino-Pardilla Laura 17 Goodman Susan M. 11 12 Gravallese Ellen M. 9 Gregersen Peter K. 27 Guthridge Joel M. 28 Gutierrez-Arcelus Maria 1 2 3 29 Gurajala Siddarth 1 2 3 Michael Holers V. 23 Horowitz Diane 27 Hughes Laura B. 30 Ishigaki Kazuyoshi 1 2 3 31 Ivashkiv Lionel B. 11 12 James Judith A. 28 Jonsson Anna Helena 9 Kang Joyce B. 1 2 3 4 Keras Gregory 9 Korsunsky Ilya 1 2 3 Lakhanpal Amit 11 12 Lederer James A. 32 Li Zhihan J. 9 Li Yuhong 9 Liao Katherine P. 4 9 Mandelin Arthur M. II 33 Mantel Ian 11 12 Maybury Mark 21 Mears Joseph 1 2 3 Meednu Nida 14 Millard Nghia 1 2 3 4 Moreland Larry W. 23 34 Nathan Aparna 1 2 3 4 Nerviani Alessandra 35 Orange Dana E. 11 36 Perlman Harris 33 Pitzalis Costantino 35 Rangel-Moreno Javier 14 Rao Deepak A. 9 Raza Karim 21 Reshef Yakir 1 2 3 Ritchlin Christopher 14 Rivellese Felice 35 Robinson William H. 37 Rumker Laurie 1 2 3 4 Sahbudin Ilfita 21 Seifert Jennifer A. 23 Slowikowski Kamil 4 38 39 Smith Melanie H. 11 Tabechian Darren 14 Scheel-Toellner Dagmar 21 Utz Paul J. 37 Weisenfeld Dana 9 Weisman Michael H. 18 37 Xiao Qian 1 2 3 Zhang Fan 1 2 3 40
Brenner M
McDavid A
Donlin L
Wei K
Price A
Raychaudhuri S
Publication year
Publication venue
Nature genetics

External Links

Snippet

Translating genome-wide association study (GWAS) loci into causal variants and genes requires accurate cell-type-specific enhancer–gene maps from disease-relevant tissues. Building enhancer–gene maps is essential but challenging with current experimental …
Continue reading at www.medrxiv.org (PDF) (other versions)

Classifications

    • GPHYSICS
    • G06COMPUTING; CALCULATING; COUNTING
    • G06FELECTRICAL DIGITAL DATA PROCESSING
    • G06F19/00Digital computing or data processing equipment or methods, specially adapted for specific applications
    • G06F19/10Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
    • G06F19/18Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
    • GPHYSICS
    • G06COMPUTING; CALCULATING; COUNTING
    • G06FELECTRICAL DIGITAL DATA PROCESSING
    • G06F19/00Digital computing or data processing equipment or methods, specially adapted for specific applications
    • G06F19/10Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
    • G06F19/22Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for sequence comparison involving nucleotides or amino acids, e.g. homology search, motif or SNP [Single-Nucleotide Polymorphism] discovery or sequence alignment
    • GPHYSICS
    • G06COMPUTING; CALCULATING; COUNTING
    • G06FELECTRICAL DIGITAL DATA PROCESSING
    • G06F19/00Digital computing or data processing equipment or methods, specially adapted for specific applications
    • G06F19/10Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
    • G06F19/28Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for programming tools or database systems, e.g. ontologies, heterogeneous data integration, data warehousing or computing architectures
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by the preceding groups
    • G01N33/48Investigating or analysing materials by specific methods not covered by the preceding groups biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Hybridisation probes
    • C12Q1/6883Hybridisation probes for diseases caused by alterations of genetic material
    • GPHYSICS
    • G06COMPUTING; CALCULATING; COUNTING
    • G06FELECTRICAL DIGITAL DATA PROCESSING
    • G06F19/00Digital computing or data processing equipment or methods, specially adapted for specific applications
    • G06F19/10Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
    • G06F19/24Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for machine learning, data mining or biostatistics, e.g. pattern finding, knowledge discovery, rule extraction, correlation, clustering or classification
    • GPHYSICS
    • G06COMPUTING; CALCULATING; COUNTING
    • G06FELECTRICAL DIGITAL DATA PROCESSING
    • G06F19/00Digital computing or data processing equipment or methods, specially adapted for specific applications
    • G06F19/10Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
    • G06F19/20Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for hybridisation or gene expression, e.g. microarrays, sequencing by hybridisation, normalisation, profiling, noise correction models, expression ratio estimation, probe design or probe optimisation
    • GPHYSICS
    • G06COMPUTING; CALCULATING; COUNTING
    • G06FELECTRICAL DIGITAL DATA PROCESSING
    • G06F19/00Digital computing or data processing equipment or methods, specially adapted for specific applications
    • G06F19/10Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
    • G06F19/16Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for molecular structure, e.g. structure alignment, structural or functional relations, protein folding, domain topologies, drug targeting using structure data, involving two-dimensional or three-dimensional structures
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by the preceding groups
    • G01N33/48Investigating or analysing materials by specific methods not covered by the preceding groups biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/5005Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • GPHYSICS
    • G06COMPUTING; CALCULATING; COUNTING
    • G06FELECTRICAL DIGITAL DATA PROCESSING
    • G06F19/00Digital computing or data processing equipment or methods, specially adapted for specific applications
    • G06F19/30Medical informatics, i.e. computer-based analysis or dissemination of patient or disease data
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/158Expression markers
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers

Similar Documents

Publication Publication Date Title
Halldorsson et al. The sequences of 150,119 genomes in the UK Biobank
Beyter et al. Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
Schwartzentruber et al. Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes
Sun et al. Plasma proteomic associations with genetics and health in the UK Biobank
Deelen et al. Improving the diagnostic yield of exome-sequencing by predicting gene–phenotype associations using large-scale gene expression analysis
Greenwald et al. Pancreatic islet chromatin accessibility and conformation reveals distal enhancer networks of type 2 diabetes risk
Aguet et al. Molecular quantitative trait loci
Arvanitis et al. Genome-wide association and multi-omic analyses reveal ACTN2 as a gene linked to heart failure
Dickel et al. Genome-wide compendium and functional assessment of in vivo heart enhancers
Bonnefond et al. Pathogenic variants in actionable MODY genes are associated with type 2 diabetes
Maurano et al. Large-scale identification of sequence variants influencing human transcription factor occupancy in vivo
Voight et al. The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits
McCarroll et al. Genome-scale neurogenetics: methodology and meaning
Sakaue et al. Tissue-specific enhancer–gene maps from multimodal single-cell data identify causal disease alleles
Dand et al. Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling
Sügis et al. HENA, heterogeneous network-based data set for Alzheimer’s disease
Pala et al. Population-and individual-specific regulatory variation in Sardinia
KR20180132727A (en) Gene variant phenotype analysis system and use method
Shigemizu et al. A practical method to detect SNVs and indels from whole genome and exome sequencing data
Lin et al. Integrated post-GWAS analysis sheds new light on the disease mechanisms of schizophrenia
Yamamoto et al. Genetic and phenotypic landscape of the mitochondrial genome in the Japanese population
Benaglio et al. Mapping genetic effects on cell type-specific chromatin accessibility and annotating complex immune trait variants using single nucleus ATAC-seq in peripheral blood
Werling et al. Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families
Hujoel et al. Protein-altering variants at copy number-variable regions influence diverse human phenotypes
Inamo et al. Long-read sequencing for 29 immune cell subsets reveals disease-linked isoforms