Genomic variations and chromosomal abnormalities

Biobank-scale genotyping of Robertsonian translocations reveals hidden structural variation on the human acrocentric chromosomes

Short-read genomes can flag Robertsonian translocation carriers by counting rDNA distal junction (DJ) copies (8 rather than 10); UK Biobank screening found 583 candidates, 1 in 841.

SVkhor: a unified framework for structural variant integration across long-read, short-read, and optical genome mapping data

SVkhor normalizes, merges and integrates long-read, short-read and optical-mapping structural variant calls; on HG002 it retained 98.6% of naive concatenation's true positives with 58.2% fewer false positives.

Machine learning-based prediction of human structural variation and characterization of associated sequence determinants

A sequence-only convolutional neural network and an annotation-based random forest predict human structural variant breakpoints from 400 bp windows (AUROC 0.903, 0.904); their ensemble reaches 0.916.

An open resource of structural variation for medical and population genetics

Short-read genome sequencing of 14,891 diverse genomes yields 433,371 structural variants (SVs) for gnomAD; loss-constrained genes also resist duplication, and clinical SV carrier rates are benchmarked.