Results of genetic analysis of 11 341 participants enrolled in the My Life, Our Future hemophilia genotyping initiative in the United States.

Jill M Johnsen Shelley N Fletcher Angela Dove Haley McCracken Beth K Martin Martin Kircher Neil C Josephson Jay Shendure Sarah E Ruuska Leonard A Valentino Glenn F Pierce Crystal Watson Dunlei Cheng Michael Recht Barbara A Konkle

Published in: Journal of thrombosis and haemostasis : JTH (2022)

The findings of MLOF are reported, the largest hemophilia genotyping project performed to date. The results support the need for comprehensive genetic approaches in hemophilia. This effort has contributed significantly towards better understanding variation in the F8 and F9 genes in hemophilia and risks of inhibitor formation.

Keyphrases

genome wide
quality improvement
high throughput
copy number
risk assessment
genetic diversity
current status
gene expression
transcription factor