About
Contact & Profiles
A5073618000
Research Areas
- Medical Imaging and Pathology Studies
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
Clinical short-read exome and genome sequencing approaches have positively impacted diagnostic testing for rare diseases. Yet, technical limitations associated with short reads challenge their use detection of disease-associated variation in complex regions the genome. Long-read (LRS) technologies may overcome these challenges, potentially qualifying as a first-tier test all To this hypothesis, we performed LRS (30x HiFi genomes) 100 samples 145 known clinically relevant germline variants...
10.1101/2024.09.17.24313798
preprint
EN
cc-by
medRxiv (Cold Spring Harbor Laboratory)
2024-09-19
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