Integrated ACMG-approved genes and ICD codes for the translational research and precision medicine.

ABSTRACT: A timely understanding of the biological secrets of complex diseases will ultimately benefit millions of individuals by reducing the high risks for mortality and improving the quality of life with personalized diagnoses and treatments. Due to the advancements in sequencing technologies and reduced cost, genomics data are developing at an unmatched pace and levels to foster translational research and precision medicine. Over 10 million genomics datasets have been produced and publicly shared in 2022. Diverse and high-volume genomics and clinical data have the potential to broaden the scope of biological discoveries and insights by extracting, analyzing and interpreting the hidden information. However, the current and still unresolved challenges include the integration of genomic profiles of

SUBMITTER: Wable R 

PROVIDER: S-EPMC10191139 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature