Identification of a large set of rare complete human knockouts. - Wikidata - awgldk - TriplyDB

Identification of a large set of rare complete human knockouts.

Identification of a large set of rare complete human knockouts.

http://www.wikidata.org/entity/Q34468556

about

Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders Analysis of protein-coding genetic variation in 60,706 humans The Human Phenotype Ontology in 2017 Inherited heart disease - what can we expect from the second decade of human iPS cell research?Testing the role of predicted gene knockouts in human anthropometric trait variation Loss of gene function and evolution of human phenotypes Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression The impact of rare and low-frequency genetic variants in common disease Frameshift indels introduced by genome editing can lead to in-frame exon skipping.Canine Brachycephaly Is Associated with a Retrotransposon-Mediated Missplicing of SMOC2.Taming Human Genetic Variability: Transcriptomic Meta-Analysis Guides the Experimental Design and Interpretation of iPSC-Based Disease Modeling.The role of neutrophils and NETosis in autoimmune and renal diseases.Health and population effects of rare gene knockouts in adult humans with related parents Big Data: Astronomical or Genomical?Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript.The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome.Mitigating false-positive associations in rare disease gene discovery Opportunities and challenges of whole-genome and -exome sequencing.A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma.Exomic variants of an elderly cohort of Brazilians in the ABraOM database.At the Bench: Neutrophil extracellular traps (NETs) highlight novel aspects of innate immune system involvement in autoimmune diseases.Canalization of genetic and pharmacological perturbations in developing primary neuronal activity patterns.Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.Survey of variation in human transcription factors reveals prevalent DNA binding changes.Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.TBR1 regulates autism risk genes in the developing neocortex A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.Identification of Siglec-1 null individuals infected with HIV-1.Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.Patterns of genic intolerance of rare copy number variation in 59,898 human exomes Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.Translational plasticity facilitates the accumulation of nonsense genetic variants in the human population.Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.High-throughput discovery of novel developmental phenotypes.The evolution of the human genome.

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P2860

Identification of a large set of rare complete human knockouts.

http://www.wikidata.org/entity/Q34468556

description

2015 nî lūn-bûn

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2015 թուականի Մարտին հրատարակուած գիտական յօդուած

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2015 թվականի մարտին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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name

Identification of a large set of rare complete human knockouts.

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Identification of a large set of rare complete human knockouts.

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Identification of a large set of rare complete human knockouts.

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type

label

Identification of a large set of rare complete human knockouts.

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Identification of a large set of rare complete human knockouts.

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Identification of a large set of rare complete human knockouts.

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prefLabel

Identification of a large set of rare complete human knockouts.

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Identification of a large set of rare complete human knockouts.

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Identification of a large set of rare complete human knockouts.

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P1433

Nature Genetics

P1476

Identification of a large set of rare complete human knockouts.

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P2093

Agnar Helgason

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Asgeir Sigurdsson

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Asmundur Oddson

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Eirikur Hjartarson

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Florian Zink

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Gisli Masson

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Gunnar Th Sigurdsson

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Hannes Helgason

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Hilma Holm

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Olafur Th Magnusson

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P2888

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448-452

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scholarly article

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10.1038/NG.3243

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5

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Hreinn Stefansson

Unnur Þorsteinsdóttir

Daniel F Gudbjartsson

Aslaug Jonasdottir

Adalbjorg Jonasdottir

Kári Stefánsson

P577

2015-03-25T00:00:00Z

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25807282

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