Genetic & Genomic MedicinemedRxivPreprint
Beyond the Gene in Genetics: How Isoform-Resolved Analysis Empowers the Study of Both Common and Rare Genetic Variation
Jeppe Malthe Mikkelsen, Dimitrios S. Kanakoglou, Chunxu Han…·Kristoffer Vitting‐Seerup
This study shows that analyzing genetic variants at the isoform level reveals significant associations with human phenotypes and rare variants, highlighting the importance of isoform-resolved analysis in genetics.
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