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...

Fuld beskrivelse

Bibliografiske detaljer
Main Authors:	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
Sprog:	English
Udgivet:	Springer Nature 2020

Lignende værker

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

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

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

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

How homologous recombination generates a mutable genome
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Udgivet: (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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Udgivet: (2021)

Accuracy and reproducibility of probe forces during simulated periodontal pocket depth measurements
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Udgivet: (2014-04-01)

In-vitro accuracy and reproducibility evaluation of probing depth measurements of selected periodontal probes
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Udgivet: (2014-01-01)

Insights from the 2018 Biology of Genomes meeting
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Udgivet: (2018-09-01)

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

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

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction
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Udgivet: (2020)

Gene conversion homogenizes the CMT1A paralogous repeats
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P155: The ClinGen framework for naming monogenic diseases*
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Udgivet: (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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Udgivet: (2023-01-01)

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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Udgivet: (2025-04-01)

The psychology of Mona Lisa’s smile
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Udgivet: (2024-05-01)

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Udgivet: (2023-02-01)

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

Machine learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits.
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Udgivet: (2020)

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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Udgivet: (2012-10-01)

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
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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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Udgivet: (2018-07-01)

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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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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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Udgivet: (2022-03-01)

Impact of pharmaceutical care interventions on the occurrence and resolution of side/adverse drug effects associated with antiretroviral drug therapy
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Udgivet: (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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Udgivet: (2013-03-01)

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

Growth of a mangrove (Rhizophora apiculata) seedlings as influenced by GA3 , light and salinity
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Udgivet: (2002-06-01)

The effects of electric impulse on growth of Rhizophora mucronata seedlings (Rhizophorales: Rhizophoraceae)
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Udgivet: (2000-12-01)

A simple method to take urethral sutures for neobladder reconstruction and radical prostatectomy
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Udgivet: (2007-01-01)

Spotlight on Givosiran as a Treatment Option for Adults with Acute Hepatic Porphyria: Design, Development, and Place in Therapy
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Udgivet: (2022-06-01)

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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Udgivet: (2023-01-01)

A Global Review of Vessel Collisions With Marine Animals
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Udgivet: (2020-05-01)