Genetic & Genomic MedicinemedRxivPreprint
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery
Anthony McGuigan, Alistair T. Pagnamenta, Laura Covill…·Nicola Whiffin
The paper creates a genome-wide map of homozygous deletions in 125,730 individuals, identifying novel rare disease genes and variants.
DOI 10.64898/2026.05.13.26352722