High throughput sequencing technologies have facilitated an outburst in biological knowledge over the past decades and thus enables improvements in personalized medicine. In order to support (international) medical research with the combination of genomic and clinical patient data, a standardization and harmonization of these data sources is highly desirable. To support this increasing importance of genomic data, we have created semantic mapping from raw genomic data to both FHIR (Fast Healthcare Interoperability Resources) and OMOP (Observational Medical Outcomes Partnership) CDM (Common Data Model) and analyzed the data coverage of both models. For this, we calculated the mapping score for different data categories and the relative data coverage in both FHIR and OMOP CDM. Our results show, that the patients genomic data can be mapped to OMOP CDM directly from VCF (Variant Call Format) file with a coverage of slightly over 50%. However, using FHIR as intermediate representation does not lead to further information loss as the already stored data in FHIR can be further transformed into OMOP CDM format with almost 100% success. Our findings are in favor of extending OMOP CDM with patient genomic data using ETL to enable the researchers to apply different analysis methods including machine learning algorithms on genomic data.
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http://dx.doi.org/10.3233/SHTI210545 | DOI Listing |
Int Urol Nephrol
January 2025
Department of Nephrology, Jiangxi Medical College, The Second Affiliated Hospital, Nanchang University, Nanchang, Jiangxi, China.
Purpose: To clarify the causal association between cardiovascular proteins and diabetic nephropathy (DN) in Europeans.
Methods: The large genome-wide association study data of cardiovascular proteins and DN were used for this two-sample Mendelian randomization (MR) analysis. We took the Inverse variance weighted (IVW) as the primary method.
Int J Radiat Oncol Biol Phys
January 2025
Providence Swedish Cancer Institute, Seattle, Washington.
Purpose: Standard therapy for breast cancer after breast-conserving surgery is radiation therapy (RT) plus hormone therapy (HT). For patients with a low-risk of recurrence, there is an interest in deescalating therapy.
Methods And Materials: A retrospective study was carried out for patients treated at the Swedish Cancer Institute from 2000 to 2015, aged 70 years or older, with pT1N0 or pT1NX estrogen receptor-positive and ERBB2-negative unifocal breast cancer without positive surgical margins, high nuclear grade, or lymphovascular invasion.
J Ovarian Res
January 2025
Department of Gynecology, Obstetrics and Gynecology Hospital of Fudan University, #128 Shenyang Road, Shanghai, 200090, People's Republic of China.
Background: Ovarian cancers (OC) and cervical cancers (CC) have poor survival rates. Tumor-infiltrating lymphocytes (TILs) play a pivotal role in prognosis, but shared immune mechanisms remain elusive.
Methods: We integrated single-cell RNA sequencing (scRNA-seq) and spatial transcriptomics (ST) to explore immune regulation in OC and CC, focusing on the PI3K/AKT pathway and FLT3 as key modulators.
Clin Epigenetics
January 2025
Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Alcohol consumption is an important risk factor for multiple diseases. It is typically assessed via self-report, which is open to measurement error through recall bias. Instead, molecular data such as blood-based DNA methylation (DNAm) could be used to derive a more objective measure of alcohol consumption by incorporating information from cytosine-phosphate-guanine (CpG) sites known to be linked to the trait.
View Article and Find Full Text PDFBMC Med Genomics
January 2025
Department of Surgery, Faculty of General of Medicine, Koya University, Koya, Kurdistan Region - F.R., KOY45, Iraq.
Background: During mammalian spermatogenesis, the cytoskeleton system plays a significant role in morphological changes. Male infertility such as non-obstructive azoospermia (NOA) might be explained by studies of the cytoskeletal system during spermatogenesis.
Methods: The cytoskeleton, scaffold, and actin-binding genes were analyzed by microarray and bioinformatics (771 spermatogenic cellsgenes and 774 Sertoli cell genes).
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