Third-generation computational approaches for genetic variant interpretation-Reference-Cited by-同舟云学术

Third-generation computational approaches for genetic variant interpretation

Published:2023-01-24 Issue:2 Volume:146 Page:411-412
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Costain Gregory¹²³^ORCID,Andrade Danielle M⁴⁵^ORCID

Affiliation:

1. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, and Program in Genetics & Genome Biology, SickKids Research Institute , Toronto, ON , Canada

2. Department of Paediatrics, University of Toronto , Toronto, ON , Canada

3. Departments of Molecular Genetics, University of Toronto , Toronto, ON , Canada

4. Adult Genetic Epilepsy (AGE) Program, Toronto Western Hospital, Krembil Brain Institute , Toronto, ON , Canada

5. Division of Neurology, Department of Medicine, University of Toronto , Toronto, ON , Canada

Abstract

This scientific commentary refers to ‘Delineation of functionally essential protein regions for 242 neurodevelopmental genes’ by Iqbal et al. (https://doi.org/10.1093/brain/awac381).

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad011/48835424/awad011.pdf

Reference9 articles.

1. Genome sequencing as a diagnostic test;Costain;CMAJ,2021

2. Computational and experimental methods for classifying variants of unknown clinical significance;Spielmann;Cold Spring Harb Mol Case Stud,2022

3. Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria;Pejaver;bioRxiv

4. Delineation of functionally essential protein regions for 242 neurodevelopmental genes;Iqbal;Brain,2023

5. Disease variant prediction with deep generative models of evolutionary data;Frazer;Nature,2021

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1. Genomics 2 Proteins portal: A resource and discovery tool for linking genetic screening outputs to protein sequences and structures;2024-01-02

2. A comparative medical genomics approach may facilitate the interpretation of rare missense variation;2023-11-13

3. Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies;The American Journal of Human Genetics;2023-11

4. An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome;2023-10-19