Cargando…

A novel statistical method for interpreting the pathogenicity of rare variants

PURPOSE: To achieve the ultimate goal of personalized treatment of patients, accurate molecular diagnosis and precise interpretation of the impact of genetic variants on gene function is essential. With the sequencing cost becoming increasingly affordable, accurate distinguishing benign from pathoge...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Jun, Liu, Hehe, Bertrand, Renae Elaine, Sarrion-Perdigones, Alejandro, Gonzalez, Yezabel, Venken, Koen J.T., Chen, Rui
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7796914/ https://www.ncbi.nlm.nih.gov/pubmed/32884132 http://dx.doi.org/10.1038/s41436-020-00948-3

Ejemplares similares

Examining multiple cellular pathways at once using multiplex hextuple luciferase assaying
por: Sarrion-Perdigones, Alejandro, et al.
Publicado: (2019)

Multiplexed drug-based selection and counterselection genetic manipulations in Drosophila
por: Matinyan, Nick, et al.
Publicado: (2021)

A GoldenBraid cloning system for synthetic biology in social amoebae
por: Kundert, Peter, et al.
Publicado: (2020)

Determining effective drug concentrations for selection and counterselection genetics in Drosophila melanogaster
por: Matinyan, Nick, et al.
Publicado: (2021)

Human pancreatic microenvironment promotes β-cell differentiation via non-canonical WNT5A/JNK and BMP signaling
por: Chmielowiec, Jolanta, et al.
Publicado: (2022)

Combinatorial Analysis of Secretory Immunoglobulin A (sIgA) Expression in Plants
por: Juarez, Paloma, et al.
Publicado: (2013)

Comparison of collapsing methods for the statistical analysis of rare variants
por: Dering, Carmen, et al.
Publicado: (2011)

Inappropriate interpretation of non‐pathogenic HTRA1 variant as pathogenic
por: Uemura, Masahiro, et al.
Publicado: (2023)

GoldenBraid: An Iterative Cloning System for Standardized Assembly of Reusable Genetic Modules
por: Sarrion-Perdigones, Alejandro, et al.
Publicado: (2011)

Resources and tools for rare disease variant interpretation
por: Licata, Luana, et al.
Publicado: (2023)

Computational methods and resources for the interpretation of genomic variants in cancer
por: Tian, Rui, et al.
Publicado: (2015)

Reply to: “Inappropriate interpretation of non‐pathogenic HTRA1 variant as pathogenic”
por: Zhang, Chen, et al.
Publicado: (2023)

Estimating and interpreting F(ST): The impact of rare variants
por: Bhatia, Gaurav, et al.
Publicado: (2013)

Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans
por: Lange, Karen I., et al.
Publicado: (2021)

A novel statistical method for rare-variant association studies in general pedigrees
por: Zhu, Huanhuan, et al.
Publicado: (2016)

GB3.0: a platform for plant bio-design that connects functional DNA elements with associated biological data
por: Vazquez-Vilar, Marta, et al.
Publicado: (2017)

Attention Should be Drawn to Rare Diseases and Interpretation of Sequence Variants
por: Tang, Bei-Sha
Publicado: (2016)

The interpretation of rare or novel variants: damaging vs. disease-causing()
por: Gutierrez-Rodrigues, Fernanda, et al.
Publicado: (2018)

Transcript expression-aware annotation improves rare variant interpretation
por: Cummings, Beryl B., et al.
Publicado: (2020)

Characterization of pathogenic SORL1 genetic variants for association with Alzheimer’s disease: a clinical interpretation strategy
por: Holstege, Henne, et al.
Publicado: (2017)

Statistical and Non-Statistical Interpretation of Test Results
por: Fernberger, Samuel W.
Publicado: (1922)

Comparative study of statistical methods for detecting association with rare variants in exome-resequencing data
por: Saad, Mohamad, et al.
Publicado: (2011)

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
por: Zhang, Xiaolei, et al.
Publicado: (2020)

Applying and interpretating statistics: a comprehensive guide
por: McPherson, Glen
Publicado: (2001)

MAIT Cells Come to the Rescue in Cancer Immunotherapy?
por: Lukasik, Zuzanna, et al.
Publicado: (2020)

Reconsidering Association Testing Methods Using Single-Variant Test Statistics as Alternatives to Pooling Tests for Sequence Data with Rare Variants
por: Kinnamon, Daniel D., et al.
Publicado: (2012)

Statistics and Data Interpretation for Social Work
por: Rosenthal, James
Publicado: (2011)

Author Correction: Transcript expression-aware annotation improves rare variant interpretation
por: Cummings, Beryl B., et al.
Publicado: (2021)

Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease
por: Avramović, Vladimir, et al.
Publicado: (2021)

Statistical experiment design and interpretation : an introduction with agricultural examples
por: Collins, Claire A.
Publicado: (1999)

Comparison of statistical approaches to rare variant analysis for quantitative traits
por: Chen, Han, et al.
Publicado: (2011)

Weighted pedigree-based statistics for testing the association of rare variants
por: Shugart, Yin Yao, et al.
Publicado: (2012)

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation
por: Kobayashi, Yuya, et al.
Publicado: (2017)

Tomato PYR/PYL/RCAR abscisic acid receptors show high expression in root, differential sensitivity to the abscisic acid agonist quinabactin, and the capability to enhance plant drought resistance
por: González-Guzmán, Miguel, et al.
Publicado: (2014)

Metabolic engineering to simultaneously activate anthocyanin and proanthocyanidin biosynthetic pathways in Nicotiana spp.
por: Fresquet-Corrales, Sandra, et al.
Publicado: (2017)

An Assay to Detect In Vivo Y Chromosome Loss in Drosophila Wing Disc Cells
por: Szabad, Janos, et al.
Publicado: (2012)

It Takes “Guts” to Cause Joint Inflammation: Role of Innate-Like T Cells
por: Mortier, Céline, et al.
Publicado: (2018)

Application and interpretation of multiple statistical tests to evaluate validity of dietary intake assessment methods
por: Lombard, Martani J, et al.
Publicado: (2015)

Interpreting basic statistics : a guide and workbook based on excerpts from journal articles
por: Holcomb, Zealure C.
Publicado: (1992)

Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants
por: Campuzano, Oscar, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_25fpjvle4m3sgubb733fvttojh