BioinformaticsScience AdvancesPeer-reviewed
Incomplete annotation of disease-associated genes is limiting our understanding of Mendelian and complex neurogenetic disorders
David Zhang, Sebastian Guelfi, Sonia García-Ruiz…·Mina Ryten
The paper identifies and validates novel transcription regions across tissues, improving gene annotation for 63% of OMIM-morbid genes and highlights tissue-specific and functionally significant variants.
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