Assistant Professor, Dermatology, UCSF. The Shain laboratory utilizes genomic approaches to better understand the biology of melanoma.
Sep 14, 2020 • 9 tweets • 2 min read
Wanted to put out a brief thread on calculating tumor mutation burden because few papers explain how they do this, and I suspect most are not calculating it accurately. Mutation burden is typically expressed as mutations per megabase.
To calculate the numerator, first and foremost, you need a high quality set of mutation calls. Most studies meet this [bare minimum] standard, however, they fail to consider…
Mar 3, 2020 • 15 tweets • 8 min read
I am thrilled to post our preprint, “The genomic landscapes of individual melanocytes from human skin” on BioRxiv. biorxiv.org/content/10.110…
Feedback is welcome. Here is a summary of what we found… (1/15)
Some background… @imartincorena, Philip Jones, and Peter Campbell deep sequenced “normal” skin, showing that keratinocytes are riddled with mutations. However, similar studies in melanocytes would require the ability to genotype individual cells. (2/15)
