The newly published HeLa genome offers glimpses of the conscious woman whose life it stole. To downplay that ethically thorny point, the study’s authors point us mainly toward hard-to-interpret novel variants. But they miss ways in which even some of those might already be informative.
In Phoenix this week, clinical geneticists have gathered at ACMG to catch up on health-relevant genomic findings and tools, and decide how to best put…
A journalist asked me last week to comment on reported plans to sequence — and ostensibly interpret — the genome of Adam Lanza, who killed…
Several weeks ago, we reviewed how a newly documented trove of rare variants in human genomes tracks our ballooning population. Most such variants, we saw,…
Three new papers spotlight a glut of rare variants in our genomes, with key insights for human history and health. Rarity abounds Data-rich new papers…