At the ACMG meeting, a Children's Hospital of Philadelphia researcher described finding relatively high rates of hereditary cancer variants in tumor sequence data.
At the AACR meeting, Elaine Mardis detailed efforts at Nationwide Children's Hospital to sequence patients' DNA and RNA to help inform therapeutic decisions.
The effort, outlined in a Development Cell paper published online today, aims to complement the ongoing Human Cell Atlas initiative, but with a focus on pediatric health.
A common variant polygenic risk score, rare cancer risk gene mutations, and prior treatments each provide clues to breast cancer risk in childhood cancer survivors.
The UK-based maker of clinical genomics interpretation software is moving into the US and China after carefully researching the differences from European markets.
