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Last Posted: Feb 15, 2024
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Prospective observational study on biomarkers of response in pancreatic ductal adenocarcinoma
L Jiang et al, Nature Medicine, January 29, 2024

From the abstract: "Adjuvant chemotherapy benefits patients with resected pancreatic ductal adenocarcinoma (PDAC), but the compromised physical state of post-operative patients can hinder compliance. Biomarkers that identify candidates for prompt adjuvant therapy are needed. In this prospective observational study, 1,171 patients with PDAC who underwent pancreatectomy were enrolled and extensively followed-up. Proteomic profiling of 191 patient samples unveiled clinically relevant functional protein modules. A proteomics-level prognostic risk model was established for PDAC, with its utility further validated using a publicly available external cohort. "

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. "

We need a genomics-savvy healthcare workforce
Nature Medicine, August 16, 2023

The increasingly central role of genomics in healthcare means that not only are more genetic counselors needed, but also multidisciplinary teams are essential for utilizing genomic technologies in the clinical setting. Genomic tests (such as those based on whole-exome or whole-genome sequencing) generate an enormous amount of highly complex data, which requires professionals with specialized bioinformatic skills and the know-how to operate within clinically accredited frameworks. In addition, although genomics is currently the most common ‘-omic’ used in the clinic, transcriptomics and proteomics are also being incorporated into algorithms to inform clinical practice.

Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis
S Zhou et al, Nature Genetics, August 9, 2023

We undertook a large-scale multiancestry exome-wide association study for estimated bone mineral density, which showed that the burden of rare coding alleles in 19 genes was associated with estimated bone mineral density (P<3.6×10–7). These genes were highly enriched for a set of known causal genes for osteoporosis (65-fold; P=2.5×10–5). Exome-wide significant genes had 96-fold increased odds of being the top ranked effector gene at a given GWAS locus (P=1.8×10–10). By integrating proteomics Mendelian randomization evidence, we prioritized CD109 (cluster of differentiation 109) as a gene for which heterozygous loss of function is associated with higher bone density.

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.