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...

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Manylion Llyfryddiaeth
Prif Awduron:	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
Fformat:	Journal article
Iaith:	English
Cyhoeddwyd:	Springer Nature 2020

Eitemau Tebyg

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

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

Algumas questões técnicas levantadas por uma prática com crianças na ótica psicanalítica
gan: Michel Plon

Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes
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Cyhoeddwyd: (2011)

Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes
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Cyhoeddwyd: (2011)

The evolution and development of left/right asymmetry in the Lophotrochozoa
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Cyhoeddwyd: (2014)

Genome-wide association study identifies 48 common genetic variants associated with handedness
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Cyhoeddwyd: (2020)

How homologous recombination generates a mutable genome
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Cyhoeddwyd: (2005-09-01)

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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Cyhoeddwyd: (2021)

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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Insights from the 2018 Biology of Genomes meeting
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Human disease genomics: from variants to biology.
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Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction
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Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?
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Gene conversion homogenizes the CMT1A paralogous repeats
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P155: The ClinGen framework for naming monogenic diseases*
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Cyhoeddwyd: (2024-01-01)

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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Comprehensive dataset of dynamic probing heavy test results for subsurface characterization
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The psychology of Mona Lisa’s smile
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Cyhoeddwyd: (2024-05-01)

O descompromisso da arte em "The Liar", de Henry James
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Cyhoeddwyd: (2023-02-01)

Another Ambiguous Expression by Leonardo da Vinci
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Cyhoeddwyd: (2022-08-01)

Entrectinib and other ALK/TRK inhibitors for the treatment of neuroblastoma
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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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Machine learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits.
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Cyhoeddwyd: (2020)

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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Mechanisms of disease: genetic insights into the etiology of type 2 diabetes and obesity.
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School results and access test results as indicators of first-year performance at university
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The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.
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Cyhoeddwyd: (2014-03-01)

Nanotechnology and the environment: A European perspective
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Cyhoeddwyd: (2007-01-01)

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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Cyhoeddwyd: (2023-01-01)

A Global Review of Vessel Collisions With Marine Animals
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From knockouts to networks: establishing direct cause-effect relationships through graph analysis.
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Spotlight on Givosiran as a Treatment Option for Adults with Acute Hepatic Porphyria: Design, Development, and Place in Therapy
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Confluent and reticulated papillomatosis: diagnostic and treatment challenges
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The presence of methylation quantitative trait loci indicates a direct genetic influence on the level of DNA methylation in adipose tissue
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Cyhoeddwyd: (2013)