Reference genome comparison finds exome variant discrepancies in 206 genes

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Reference genome comparison finds exome variant discrepancies in 206 genes

In the two decades since the Human Genome Project mapped the entire human genome, improvements in technology have helped in developing updated reference genomes used for sequencing. But while the GRCh38 (hg38) human reference genome was released more than seven years ago, the older GRCh37 (hg19) reference remains widely used by most research and clinical laboratories. In a new study published in the American Journal of Human Genetics, researchers at the Human Genome Sequencing Center at Baylor College of Medicine identify genetic variant discrepancies between the two references, creating guidance for laboratories to take advantage of an improved human reference genome.

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