GenomicsGenome ResearchPeer-reviewed
Detection of structural mosaicism from targeted and whole-genome sequencing data
Daniel A King, Alejandro Sifrim, Tomas W. Fitzgerald…·The Deciphering Developmental Disorders Study
The paper introduces MrMosaic, a method to detect structural mosaicism using sequencing data, finding that blood-only testing misses over 50% of mosaic rearrangements.
DOI 10.1101/gr.212373.116