Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches.

Brent S PedersenPreetida J BhetariyaJoe BrownStephanie N KravitzGabor MarthRandy L JensenMary P BronnerHunter R UnderhillAaron R Quinlan

Published in: Genome medicine (2020)

Somalier is a tool that can rapidly evaluate relatedness from sequencing data. It can be applied to diverse sequencing data types and genome builds and is available under an MIT license at github.com/brentp/somalier .

Keyphrases

electronic health record
single cell
big data
papillary thyroid
genome wide
squamous cell
dna repair
squamous cell carcinoma
data analysis
case control
deep learning