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...

书目详细资料
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
格式:	Journal article
语言:	English
出版:	Springer Nature 2020

相似书籍

A distribution-centered approach for analyzing human adipocyte size estimates and their association with obesity-related traits and mitochondrial function
由: Honecker, J, et al.
出版: (2021)

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

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

The evolution and development of left/right asymmetry in the Lophotrochozoa
由: Kenny, NJ
出版: (2014)

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

Gene duplication: the genomic trade in spare parts.
由: Matthew Hurles
出版: (2004-07-01)

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
由: Gower, CM, et al.
出版: (2021)

Accuracy and reproducibility of probe forces during simulated periodontal pocket depth measurements
由: K.N. Al Shayeb, et al.
出版: (2014-04-01)

In-vitro accuracy and reproducibility evaluation of probing depth measurements of selected periodontal probes
由: K.N. Al Shayeb, et al.
出版: (2014-01-01)

Insights from the 2018 Biology of Genomes meeting
由: Ninad Oak, et al.
出版: (2018-09-01)

Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes
由: Small, K, et al.
出版: (2011)

Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes
由: Small, K, et al.
出版: (2011)

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction
由: Weng, L-C, et al.
出版: (2020)

Gene conversion homogenizes the CMT1A paralogous repeats
由: Hurles Matthew E
出版: (2001-12-01)

A call to action to scale up research and clinical genomic data sharing
由: Stark, Z, et al.
出版: (2024)

P155: The ClinGen framework for naming monogenic diseases*
由: Courtney Thaxton, et al.
出版: (2024-01-01)

O56: The Clinical Genome Resource (ClinGen): Engaging the patient community in ClinGen’s work through Facebook Hereditary Cancer Groups
由: Deborah Ritter, et al.
出版: (2023-01-01)

Predicting mRNA Abundance Directly from Genomic Sequence Using Deep Convolutional Neural Networks
由: Vikram Agarwal, et al.
出版: (2020-05-01)

Machine learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits.
由: Glastonbury, CA, et al.
出版: (2020)

Entrectinib and other ALK/TRK inhibitors for the treatment of neuroblastoma
由: Pacenta HL, et al.
出版: (2018-10-01)

Comprehensive dataset of dynamic probing heavy test results for subsurface characterization
由: E. Soranzo
出版: (2025-04-01)

O descompromisso da arte em "The Liar", de Henry James
由: Thaís Soranzo
出版: (2023-02-01)

Another Ambiguous Expression by Leonardo da Vinci
由: Soranzo Alessandro
出版: (2022-08-01)

The psychology of Mona Lisa’s smile
由: Alessandro Soranzo
出版: (2024-05-01)

A Framework for Applying the Learning Sciences to MOOC Design
由: Gordon, DG, et al.
出版: (2021)

Underwater Chatter for the Win: A First Assessment of Underwater Soundscapes in Two Bays along the Eastern Cape Coast of South Africa
由: Renée P. Schoeman, et al.
出版: (2022-05-01)

Bernoulli mixture models in application to the evaluation of algorithms estimating functionality of missense mutations
由: Hicks Stephanie, et al.
出版: (2012-10-01)

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
由: Rajarshi Ghosh, et al.
出版: (2017-11-01)

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
由: K.N. Stelmakh, et al.
出版: (2022-03-01)

ACTION AND CONSEQUENCES OF URBAN SEWAGE SLUDGES IN COMBINATION WITH ZEOLITE-CONTAINING AGRO-ORE ON WATER AVAILABILITY AND PRODUCTIVITY OF GRAINPASTURE CROP ROTATION
由: A.N. Arefyev, et al.
出版: (2019-03-01)

Fe3O4 nanoparticle supported Ni(II) complexes: A magnetically recoverable catalyst for Biginelli reaction
由: D. Girija, et al.
出版: (2019-03-01)

School results and access test results as indicators of first-year performance at university
由: A Bothma, et al.
出版: (2004-06-01)

Statistical properties of indicators of first-year performance at university
由: NJ le Roux, et al.
出版: (2004-12-01)

The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.
由: Jacqueline A L MacArthur, et al.
出版: (2014-03-01)

FlashFry: a fast and flexible tool for large-scale CRISPR target design
由: Aaron McKenna, et al.
出版: (2018-07-01)

Early Results of Goniotomy with the Kahook Dual Blade, a Novel Device for the Treatment of Glaucoma
由: Kornmann HL, et al.
出版: (2019-12-01)

Impact of pharmaceutical care interventions on the occurrence and resolution of side/adverse drug effects associated with antiretroviral drug therapy
由: Nwaozuzu, E.E., et al.
出版: (2012-12-01)

Impact of pharmaceutical care interventions on the occurrence and resolution of drug therapy problems in antiretroviral drug therapy
由: Nwaozuzu, E.E., et al.
出版: (2013-03-01)

Pharmaceutical care interventions, their outcomes and patients’ satisfaction in antiretroviral drug therapy
由: Nwaozuzu, E.E., et al.
出版: (2013-03-01)

Experimental Snap Loading of Synthetic Ropes
由: C.M. Hennessey, et al.
出版: (2005-01-01)