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What is Exome Variant Discrepancies in Genomes about?
The document describes supplemental figures from The American Journal of Human Genetics regarding exome variant discrepancies due to reference genome differences. Figure S1 shows demographics of study participants and molecular diagnoses made using GRCh37. Figure S2 and S3 show the genomic location of discordant variants found on GRCh37 and GRCh38, respectively, with variant density plots and rainfall plots depicting the distribution of variants across chromosomes. An example is given of variant positions d
- Author
- Yannis L. Loukas
- Language
- EN