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Genomics Research to Elucidate the Genetics of Rare Diseases
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UW center plays key role in advancing rare genetic disease research
Recent publications
Widespread distribution of Alu/Alu-mediated genomic rearrangement predisposing to a broad range of Mendelian disease and cancer in human populations
Genome Medicine.
Apr 2026
Elsa Leitão, et al.
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Nature Genetics.
Mar 2026
De novo variant identification from duo long-read sequencing
AJHG.
Mar 2026
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