Overcoming the challenges of interpreting complex and uncommon RH alleles from whole genomes.

Justin B L HallsSunitha VegeDaimon P SimmonsJudith AeschlimannBaderha BujiririHelen H MahMatthew S LeboPrathik K Vijay KumarConnie M Westhoff William J Lane

Published in: Vox sanguinis (2020)

The combination of several different interpretive approaches allowed for automated software based-RH genotyping of WGS data including RHD zygosity and complex compound RHD and RHCE heterozygotes. The scalable nature of this automated analysis will enable RH genotyping in large genomic sequencing projects.

Keyphrases

high throughput
single cell
machine learning
deep learning
genome wide
big data
genetic diversity
electronic health record
quality improvement
dna methylation
artificial intelligence