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Last Posted: Jan 15, 2024
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Challenges and best practices in omics benchmarking.
Thomas G Brooks et al. Nat Rev Genet 2024 1

From the abstract: "Benchmarking refers to the process of objectively comparing and evaluating the performance of different computational or analytical techniques when processing and analysing large-scale biological data sets, such as transcriptomics, proteomics and metabolomics. With thousands of omics benchmarking studies published over the past 25 years, the field has matured to the point where the foundations of benchmarking have been established and well described. "

A framework for evaluating long-term impact of newborn screening
S Kalkman et al, EJHG, October 3, 2023

From the article: "Today, expansion of NBS is accompanied by even more uncertainty about the benefit-harm ratio than before. New pharmacotherapies and technological developments in metabolomics and genomics have led to a substantial expansion of the NBS panel in a relatively short period of time. These novel tests and treatment options have generally not been assessed in presymptomatic individuals and knowledge on long-term outcome of treatment is lacking. Periodic evaluation would thus create important opportunities for continuous quality improvement; if the benefit-harm ratio is unfavorable then there is a strong case for adjustments or even for removing a condition from the panel."

Power of Public Investment in Curated Big Health Data.
Paula Anne Newman-Casey et al. JAMA Ophthalmol 2023 9

From the paper: "Public investment from the US and the UK in creating the UK Biobank and the All of Us databases has resulted in the generation of critical new knowledge to better understand human health. Both projects have created publicly available data sets to encourage researchers to leverage large quantities of data to identify patterns and advance health care. Moreover, each database has its unique strengths. The UK Biobank data set goes deep into genomics, metabolomics, brain, heart, and ocular imaging, providing granular and specific measurements to inform many fields of study. The All of Us data set includes biospecimens, linkages to electronic health records, and survey results."

From Mendel to multi-omics: shifting paradigms
TB Mersha, EJHG, July 20, 2023

Multi-omics analysis is an emerging approach that aims to better understand health and disease through the convergence of different omics studies (genomics, transcriptomics, proteomics, metabolomics, metagenomics, phenomics, exposomics). Although technical limitations related to the analysis of high-dimensional multi-omics datasets and use of fairly small samples have hindered our ability to conduct multi-omic research, emerging technology and computational tools have facilitated impactful multi-omic research.

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.