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References from Protocol for detecting germline copy number variants from whole-exome sequencing using agent-assisted Snakemake workflows. Local targets link to admitted publications; unresolved targets remain external evidence.
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data
10.1038/s41588-023-01449-0 · 2023 · External reference
Fast and accurate short read alignment with Burrows-Wheeler transform
10.1093/bioinformatics/btp324 · 2009 · External reference
The Sequence Alignment/Map format and SAMtools
10.1093/bioinformatics/btp352 · 2009 · External reference
AnnotSV: an integrated tool for structural variations annotation
10.1093/bioinformatics/bty304 · 2018 · External reference
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis
10.1093/nar/gkab402 · 2021 · External reference
The AnnotSV webserver in 2023: updated visualization and ranking
10.1093/nar/gkad426 · 2023 · External reference
Integrative genomics viewer
10.1038/nbt.1754 · 2011 · External reference
Unresolved reference
External reference
HandyCNV: Standardized Summary, Annotation, Comparison, and Visualization of Copy Number Variant, Copy Number Variation Region, and Runs of Homozygosity
10.3389/fgene.2021.731355 · 2021 · External reference
Deciphering Cancer Genomes with GenomeSpy: A Grammar-Based Visualization Toolkit
2023 · External reference
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
10.1093/nar/gku1205 · 2015 · External reference
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources
10.1016/j.gim.2022.04.017 · 2022 · External reference
The mutational constraint spectrum quantified from variation in 141,456 humans
10.1038/s41586-020-2308-7 · 2020 · External reference
A global reference for human genetic variation
10.1038/nature15393 · 2015 · External reference
The Database of Genomic Variants: a curated collection of structural variation in the human genome
10.1093/nar/gkt958 · 2014 · External reference
Expanded encyclopaedias of DNA elements in the human and mouse genomes
10.1038/s41586-020-2493-4 · 2020 · External reference
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
10.1038/gim.2013.73 · 2013 · External reference
ClinGen--the clinical genome resource
10.1056/nejmsr1406261 · 2015 · External reference
