Leila Katirayi, Sozinho Ndima, Amgad Farah, Whitney Ludwig, Atanásio Mabote, Ismail Chiposse, Ana Muteerwa, Jessica Greenberg Cowan, Ivete Meque
Evaluation of a peer-support, 'mentor mother' program in Gaza, Mozambique; a qualitative study
BMC health services research
clinical genetic laboratories must access clinically validated biomedical data precision medicine lack accessibility normalized structure consistency evaluation complicates interpretation disease causality resulting confusion assessing clinical validity genes genetic variants diagnosis key goal clinical genome resource clingen fill knowledge gap concerning strength evidence supporting role gene monogenic disease achieved process known genedisease validity curation review work clingen developing curation infrastructure supports standardization harmonization dissemination genedisease validity data creation frameworks utilization common data standards infrastructure based several applications including clingen genetracker gene curation interface data exchange genegraph website