Goal 3: Advance Translational Research

Genome Profiling

How can proper infrastructure be designed to host sequencing data from hematologic diseases so as to enable its efficient interpretation and use in clinical care?

Tags (Keywords associated with the idea)

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)?: Compelling Question (CQ)

Details on the impact of addressing this CQ or CC:

Accurate and consistent analysis of genetic data is crucial for both basic research and clinical applications, however, the complexity of sequence mutations in several blood disorders as well as the immense amounts of raw data produced during the sequencing and analysis process, make accurate bioinformatics analysis a challenge. Furthermore, the lack of consistency in the analysis of the non-coding genome and variations in correlating this information with transcriptional and epigenetic data pose an additional challenge in obtaining a comprehensive portrait of various hematologic diseases. To overcome these challenges, content-rich portals that can offer cost-effective and regulated access to raw genomic data for interrogating and sharing sequencing results without compromising patient privacy must be designed. Also, the biologic and clinical relevance of genetic alterations found in these portals must be reliable and sufficiently comprehensive in order to foster proper interpretation.

Name of idea submitter and other team members who worked on this idea: Alice Kuaban on behalf of the American Society of Hematology (ASH)


-8 net votes
10 up votes
18 down votes
Idea No. 519