Combination of expert guidelines-based and machine learning-based approaches leads to superior accuracy of automated prediction of clinical effect of copy number variations

StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants

(2022) Andrew G. Sharo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Automated prediction of the clinical impact of structural copy number variations

(2022) M. Gažiová et al.   Scientific Reports

Copy number variation: Characteristics, evolutionary and pathological aspects

(2021) Ondrej Pös et al.   Biomedical Journal

Stepwise ABC system for classification of any type of genetic variant

(2021) Gunnar Houge et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

X-CNV: genome-wide prediction of the pathogenicity of copy number variations

(2021) Li Zhang et al.   Genome Medicine

AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs

(2021) Chunna Fan et al.   BMC GENOMICS

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

ClassifyCNV: a tool for clinical annotation of copy-number variants

(2020) Tatiana A. Gurbich et al.   Scientific Reports

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

(2019) Erin Rooney Riggs et al.   GENETICS IN MEDICINE

AnnotSV: an integrated tool for structural variations annotation

(2018) Véronique Geoffroy et al.   BIOINFORMATICS

GENCODE reference annotation for the human and mouse genomes

(2018) Adam Frankish et al.   NUCLEIC ACIDS RESEARCH

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

SVScore: an impact prediction tool for structural variation

(2016) Liron Ganel et al.   BIOINFORMATICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

(2015) Nuala A. O'Leary et al.   NUCLEIC ACIDS RESEARCH

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

The UCSC genome browser and associated tools

(2012) R. M. Kuhn et al.   BRIEFINGS IN BIOINFORMATICS

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION