Mark DePristo

icon indicating a website link https://www.linkedin.com/in/markdepristo/ icon indicating an email [email protected]

icon company BigHat Biosciences icon location San Francisco icon location Founder and CEO of BigHat Biosciences

Results 3 issues of Mark DePristo

Potential bug with hom-alt truth and multiple het candidate representation

1 comment

Hi hap.py authors: I think I may have run into a bug in happy, but I'm not 100% certain. Here's the example: query: 20 57777379 . C CT 0 ....

Incorrect FN assignment in latest hap.py

2 comment

Hi Happy authors, We've been using hap.py for our internal DeepVariant evaluations and recently did a deep dive into some of the FPs and FNs and discovered what looks like...

happy treats variants that aren't fully within the confident regions as confident

3 comment

In our deep dive into happy with DeepVariant we've noticed that hap.py includes in its confident calls for comparison any multi-base event (e.g., a deletion) that merely overlaps with the...