Embedded Files
Databáze
Databáze
ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/
ClinGen: https://clinicalgenome.org/
UCSC: https://genome.ucsc.edu/
Unique: https://rarechromo.org/
GeneReviews: https://www.ncbi.nlm.nih.gov/books/NBK1116/
Decipher: https://www.deciphergenomics.org/ , v případě zadávání koordinát v genomu h19 psát ve formátu grch37:číslo chromozomu:start-stop
GeneCards: https://www.genecards.org/
GeneScout: https://genescout.omim.org/
ISCN: https://iscn.karger.com/
OMIM: https://www.omim.org/
Publikace
Publikace
ACMG SF v3.1_2022.pdfACMG SF v3.1 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)
ACMG_CNV_2020.pdfTechnical 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)
kalkulátor hodnocení CNV variant navazující na tuto publikaci: AutoCNV: https://phoenix.bgi.com/autocnv/
Practice guideline-joint CCMG-SOGC_2018.pdfPractice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada (2018)
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