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Annotation of exons with variants from the 1000 genomes project and analysis of the non-synonymous to synonymous ratio for both rare and common alleles frequencies to determine the kind of selection these exons are under.

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Non-synonymous to synonymous ratio visualization

Annotation of exons with variants from the 1000 genomes project and analysis of the non-synonymous to synonymous ratio for both rare and common alleles frequencies to determine the kind of selection these exons are under.

This is an example of the resulting plot as shown in APPRIS principal isoforms and MANE Select transcripts define reference splice variants

image

Fernando Pozo, José Manuel Rodriguez, Laura Martínez Gómez, Jesús Vázquez, Michael L Tress, APPRIS principal isoforms and MANE Select transcripts define reference splice variants, Bioinformatics, Volume 38, Issue Supplement_2, September 2022, Pages ii89–ii94, https://doi.org/10.1093/bioinformatics/btac473

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Annotation of exons with variants from the 1000 genomes project and analysis of the non-synonymous to synonymous ratio for both rare and common alleles frequencies to determine the kind of selection these exons are under.

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