Tag Archives: 1000 genomes

Using GRCh38 for Clinical Interpretation: Now Possible with Our Custom LiftOver Tracks

There are many good reasons why the pursuit of the highest quality genomic interpretation would lead you to the latest human reference. It is more complete and fixes incorrect or partially missing genes that have known implications for human disease. While most major projects cataloging human populations have plans to re-do all their genomic alignments to the new human reference… Read more »

The Clinical Utility of the 1000 Genomes Variant Frequencies

We have a lot to thank the 1000 Genomes project for in the genomics community. By the collaborate efforts of many researchers and organizations, the project produced not only the first catalog of rare human variation but in the process standardized many things we take for granted, such as the VCF and BAM file formats. The variant frequencies of the… Read more »