Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome
The profiling of genetic variants affecting splicing can give insight into disease mechanisms. Here, the authors develop a pipeline for discovery of variants affecting splicing (sQTLs) and with application to the GTEx dataset they generate a catalog of human sQTLs.
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2021-02-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-020-20578-2 |