Article

Incomplete annotation of disease-associated genes is limiting our understanding of Mendelian and complex neurogenetic disorders

2018-12-19

Abstract excerpt

There is growing evidence to suggest that human gene annotation remains incomplete, with a disproportionate impact on the brain transcriptome. We used RNA-sequencing data from GTEx to detect novel transcription in an annotation-agnostic manner across 13 human brain regions and 28 human tissues. We found that genes highly expressed in brain are significantly more likely to be re-annotated, as are genes associated w...

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Literature Corpus work: 37a36249-b9a1-5ff1-8387-2307a5d73169
DOI: 10.1101/499103

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