A brief history of human disease genetics

A brief history of human disease genetics

A primary goal of human genetics is to identify DNA sequence variants that influence biomedical traits, particularly those related to the onset and progression of human disease. Over the past 25 years, progress in realizing this objective has been transformed by advances in technology, foundational...

Bibliografski detalji
Glavni autori:	Claussnitzer, M, Cho, JH, Collins, R, Cox, NJ, Dermitzakis, ET, Hurles, ME, Kathiresan, S, Kenny, EE, Lindgren, CM, MacArthur, DG, North, KN, Plon, SE, Rehm, HL, Risch, N, Rotimi, CN, Shendure, J, Soranzo, N, McCarthy, MI
Format:	Journal article
Jezik:	English
Izdano:	Springer Nature 2020

Slični predmeti

A distribution-centered approach for analyzing human adipocyte size estimates and their association with obesity-related traits and mitochondrial function
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Izdano: (2021)

Essais de rationnement de boucs de la race rousse de Maradi avec des sous-produits de l'agriculture locale (Niger)
od: G. Plon
Izdano: (1979-03-01)

Algumas questões técnicas levantadas por uma prática com crianças na ótica psicanalítica
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The evolution and development of left/right asymmetry in the Lophotrochozoa
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Izdano: (2014)

How homologous recombination generates a mutable genome
od: Hurles Matthew
Izdano: (2005-09-01)

Gene duplication: the genomic trade in spare parts.
od: Matthew Hurles
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Sustained declines in age group-specific rotavirus infection and acute gastroenteritis in vaccinated and unvaccinated individuals during the five years since Rotavirus vaccine introduction in England
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Insights from the 2018 Biology of Genomes meeting
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Accuracy and reproducibility of probe forces during simulated periodontal pocket depth measurements
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In-vitro accuracy and reproducibility evaluation of probing depth measurements of selected periodontal probes
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Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction
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Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes
od: Small, K, i dr.
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Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes
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P155: The ClinGen framework for naming monogenic diseases*
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Gene conversion homogenizes the CMT1A paralogous repeats
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A call to action to scale up research and clinical genomic data sharing
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O56: The Clinical Genome Resource (ClinGen): Engaging the patient community in ClinGen’s work through Facebook Hereditary Cancer Groups
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Predicting mRNA Abundance Directly from Genomic Sequence Using Deep Convolutional Neural Networks
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Entrectinib and other ALK/TRK inhibitors for the treatment of neuroblastoma
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Comprehensive dataset of dynamic probing heavy test results for subsurface characterization
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Another Ambiguous Expression by Leonardo da Vinci
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Underwater Chatter for the Win: A First Assessment of Underwater Soundscapes in Two Bays along the Eastern Cape Coast of South Africa
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Bernoulli mixture models in application to the evaluation of algorithms estimating functionality of missense mutations
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Izdano: (2012-10-01)

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
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Machine learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits.
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A Framework for Applying the Learning Sciences to MOOC Design
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FlashFry: a fast and flexible tool for large-scale CRISPR target design
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Early Results of Goniotomy with the Kahook Dual Blade, a Novel Device for the Treatment of Glaucoma
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Fe3O4 nanoparticle supported Ni(II) complexes: A magnetically recoverable catalyst for Biginelli reaction
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School results and access test results as indicators of first-year performance at university
od: A Bothma, i dr.
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Statistical properties of indicators of first-year performance at university
od: NJ le Roux, i dr.
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CHANGES IN THE FERTILITY OF THE MEADOW-CHERNOZEM SOIL AND THE PRODUCTIVITY OF AGRICULTURAL CROPS UNDER THE AFTER-EFFECT OF URBAN SEWAGE SLUDGE AND ZEOLITE-CONTAINING AGRICULTURAL ORE
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Izdano: (2022-03-01)

The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.
od: Jacqueline A L MacArthur, i dr.
Izdano: (2014-03-01)

Impact of pharmaceutical care interventions on the occurrence and resolution of side/adverse drug effects associated with antiretroviral drug therapy
od: Nwaozuzu, E.E., i dr.
Izdano: (2012-12-01)

Impact of pharmaceutical care interventions on the occurrence and resolution of drug therapy problems in antiretroviral drug therapy
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Nanotechnology and the environment: A European perspective
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O10: Implications of two population-based genetic studies of breast cancer on hereditary cancer gene curation using the ClinGen gene-disease validity framework*
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Izdano: (2023-01-01)

A Global Review of Vessel Collisions With Marine Animals
od: Renée P. Schoeman, i dr.
Izdano: (2020-05-01)