A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery
Anthony McGuigan, Alistair T. Pagnamenta, Laura Covill, Jacob Sampson, Carme Camps, Yuyang Chen, Tanishi Moitra, V. Kartik Chundru, Emily O’Heir, Kirsten Allan, Gavin Arno, Alexander A. Broomfield, Martin Bruce Delatycki, Siying Lin, Michel Michaelides, , Nicola Whiffin
The paper creates a genome-wide map of homozygous deletions in 125,730 individuals, identifying novel rare disease genes and variants.
medRxiv · May 15, 2026 · PreprintGenetic & Genomic Medicine