Cargando…

Editorial: Whole Genome Sequencing for rare diseases

Detalles Bibliográficos
Autores principales:	Di Resta, Chiara, D'Argenio, Valeria
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Medicine
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10546400/ https://www.ncbi.nlm.nih.gov/pubmed/37795418 http://dx.doi.org/10.3389/fmed.2023.1267930

Ejemplares similares

Current Updates on Expanded Carrier Screening: New Insights in the Omics Era
por: Veneruso, Iolanda, et al.
Publicado: (2022)

Probiotics, prebiotics and their role in Alzheimer’s disease
por: D'Argenio, Valeria, et al.
Publicado: (2021)

Microbiome Influence in the Pathogenesis of Prion and Alzheimer’s Diseases
por: D’Argenio, Valeria, et al.
Publicado: (2019)

New Insights into the Molecular Bases of Familial Alzheimer’s Disease
por: D’Argenio, Valeria, et al.
Publicado: (2020)

The High-Throughput Analyses Era: Are We Ready for the Data Struggle?
por: D’Argenio, Valeria
Publicado: (2018)

Human Microbiome Acquisition and Bioinformatic Challenges in Metagenomic Studies
por: D’Argenio, Valeria
Publicado: (2018)

The Prenatal Microbiome: A New Player for Human Health
por: D’Argenio, Valeria
Publicado: (2018)

Advance in Genomics of Rare Genetic Diseases
por: Sommariva, Elena, et al.
Publicado: (2023)

Multi-gene panel testing increases germline predisposing mutations’ detection in a cohort of breast/ovarian cancer patients from Southern Italy
por: Nunziato, Marcella, et al.
Publicado: (2022)

Endosomal trafficking and related genetic underpinnings as a hub in Alzheimer's disease
por: Limone, Adriana, et al.
Publicado: (2022)

The evolving role of genetic tests in reproductive medicine
por: Cariati, Federica, et al.
Publicado: (2019)

One4Two(®): An Integrated Molecular Approach to Optimize Infertile Couples’ Journey
por: D’Argenio, Valeria, et al.
Publicado: (2021)

Rare variants discovery by extensive whole-genome sequencing of the Han Chinese population in Taiwan: Applications to cardiovascular medicine
por: Juang, Jyh-Ming Jimmy, et al.
Publicado: (2020)

Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives
por: Precone, Vincenza, et al.
Publicado: (2015)

Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report
por: Nunziato, Marcella, et al.
Publicado: (2017)

Comparative Metagenomic Analysis of Human Gut Microbiome Composition Using Two Different Bioinformatic Pipelines
por: D'Argenio, Valeria, et al.
Publicado: (2014)

Microbiota and Human Reproduction: The Case of Male Infertility
por: Tomaiuolo, Rossella, et al.
Publicado: (2020)

Microbiota and Human Reproduction: The Case of Female Infertility
por: Tomaiuolo, Rossella, et al.
Publicado: (2020)

From laboratory bench to benchmark: technology transfer in laboratory medicine
por: Cariati, Federica, et al.
Publicado: (2020)

Recommendations for whole genome sequencing in diagnostics for rare diseases
por: Souche, Erika, et al.
Publicado: (2022)

Editorial: Model-informed decision making in the preclinical stages of pharmaceutical research and development
por: Li, Rui, et al.
Publicado: (2023)

Rare Event Simulation for Non-Markovian Repairable Fault Trees
por: Budde, Carlos E., et al.
Publicado: (2020)

The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis
por: Coelho, Antonio Victor Campos, et al.
Publicado: (2022)

Gut Microbiome and Mycobiome Alterations in an In Vivo Model of Alzheimer’s Disease
por: D’Argenio, Valeria, et al.
Publicado: (2022)

A whole‐body circulatory neutrophil model with application to predicting clinical neutropenia from in vitro studies
por: Chen, Wenbo, et al.
Publicado: (2021)

Combined aCGH and Exome Sequencing Analysis Improves Autism Spectrum Disorders Diagnosis: A Case Report
por: Ranieri, Annaluisa, et al.
Publicado: (2022)

Tracking the Origin of Austrian Human Brucellosis Cases Using Whole Genome Sequencing
por: Schaeffer, Justine, et al.
Publicado: (2021)

Unraveling the Balance between Genes, Microbes, Lifestyle and the Environment to Improve Healthy Reproduction
por: D’Argenio, Valeria, et al.
Publicado: (2021)

Editorial: Marching Toward 100% Whole Genome Sequencing
por: Shiao, Yih-Horng
Publicado: (2016)

Identification of Rare Variants in Right Ventricular Outflow Tract Obstruction Congenital Heart Disease by Whole-Exome Sequencing
por: Zhou, Yue, et al.
Publicado: (2022)

Whole Genome Sequencing and Spatial Analysis Identifies Recent Tuberculosis Transmission Hotspots in Ghana
por: Asare, Prince, et al.
Publicado: (2020)

Characterization of the Duodenal Mucosal Microbiome in Obese Adult Subjects by 16S rRNA Sequencing
por: Nardelli, Carmela, et al.
Publicado: (2020)

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
por: Macken, William L., et al.
Publicado: (2022)

Case report: Intraabdominal infection of Mycobacterium syngnathidarum in an immunocompetent patient confirmed by whole-genome sequencing
por: Ge, Hu, et al.
Publicado: (2023)

Spatial Frequency Tuning of Body Inversion Effects
por: D’Argenio, Giulia, et al.
Publicado: (2023)

Whole genome sequencing of the multidrug-resistant Chryseobacterium indologenes isolated from a patient in Brazil
por: Damas, Marcelo Silva Folhas, et al.
Publicado: (2022)

Motion and Gender-Typing Features Interact in the Perception of Human Bodies
por: D’Argenio, Giulia, et al.
Publicado: (2020)

Analytical solution of linear multi-compartment models with non-zero initial condition and its implementation with R
por: D'Argenio, David Z., et al.
Publicado: (2019)

Experience-dependent reshaping of body gender perception
por: D’Argenio, Giulia, et al.
Publicado: (2021)

A common microbial signature is present in the lower airways of interstitial lung diseases including sarcoidosis
por: D’Argenio, Valeria, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_v5ifqlo2be3su5fbcknvl0lm5j