2025
ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). 2025 https://pmc.ncbi.nlm.nih.gov/articles/PMC12318660/pdf/nihms-2080666.pdf
2024
AACGS Best Practice Guidelines for Variant Classification in Rare Disease 2024. 2428_media12533uk-practice-guidelines-for-variant-class.pdf
2020
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). 2020 ACMG_CNV_2020.pdf
kalkulátor hodnocení CNV variant navazující na tuto publikaci: AutoCNV: https://phoenix.bgi.com/autocnv/
2018
Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada. 2018 Practice guideline-joint CCMG-SOGC_2018.pdf