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Artificial intelligence and machine learning in cell-free-DNA-based diagnostics.
Genome Res
January 2025
Center for Novostics, Hong Kong Science Park, Pak Shek Kok, New Territories, Hong Kong SAR, China;
The discovery of circulating fetal and tumor cell-free DNA (cfDNA) molecules in plasma has opened up tremendous opportunities in noninvasive diagnostics such as the detection of fetal chromosomal aneuploidies and cancers and in posttransplantation monitoring. The advent of high-throughput sequencing technologies makes it possible to scrutinize the characteristics of cfDNA molecules, opening up the fields of cfDNA genetics, epigenetics, transcriptomics, and fragmentomics, providing a plethora of biomarkers. Machine learning (ML) and/or artificial intelligence (AI) technologies that are known for their ability to integrate high-dimensional features have recently been applied to the field of liquid biopsy.
View Article and Find Full Text PDFEmbryo Mosaicism Rate in National Referral Hospital of Indonesia Detected Using Next-Generation Sequencing: A Retrospective Study.
Int J Fertil Steril
January 2025
Reproductive Immunoendocrinology Division, Department of Obstetrics and Gynecology, Faculty of Medicine Universitas Indonesia - dr. Cipto Mangunkusumo General Hospital, Jakarta, Indonesia.
Background: Chromosomal mosaicism, a phenomenon observed in a minority of embryos, showcases its prevalence and inherent unpredictability, leading to variations in embryo mosaic rates across different centers. This research endeavors to assess the prevalence of mosaicism and its characteristics within the scope of our preimplantation genetic testing-A (PGT-A) services in Indonesia. Specifically focusing on our center's experience since 2020, this study aims to elucidate mosaic rates among embryos in our care.
View Article and Find Full Text PDFPreterm preeclampsia screening and prevention: a comprehensive approach to implementation in a real-world setting.
BMC Pregnancy Childbirth
January 2025
Genetic Program, North York General Hospital, Toronto, ON, Canada.
Background: Preeclampsia significantly impacts maternal and perinatal health. Early screening using advanced models and primary prevention with low-dose acetylsalicylic acid for high-risk populations is crucial to reduce the disease's incidence. This study assesses the feasibility of implementing preterm preeclampsia screening and prevention by leveraging information from our current aneuploidy screening program in a real-world setting with geographic separation clinical site and laboratory analysis site.
View Article and Find Full Text PDFComparison of Non-Invasive and Minimally Invasive Preimplantation Genetic Testing for Aneuploidy Using Samples Derived from the Same Embryo Culture.
J Clin Med
December 2024
Collegium Medicum, WSB University, 41-300 Dąbrowa Górnicza, Poland.
: To assess the ploidy status of embryos via preimplantation genetic testing for aneuploidy (PGT-A), a biopsy of trophectoderm (TE) cells can be performed. However, this approach is considered invasive, and therefore the aim of this study was to identify the optimal sample type and sampling day for non-invasive or minimally invasive PGT-A (ni/miPGT-A) in terms of data quality and concordance rates with TE biopsies derived from the same embryos. : This study was performed using 239 embryo cultures.
View Article and Find Full Text PDFConserved patterns of transcriptional dysregulation, heterogeneity, and cell states in clear cell kidney cancer.
Cell Rep
January 2025
NDM Research Building, University of Oxford, Old Road Campus, Headington, Oxford OX3 7FZ, UK. Electronic address:
Clear cell kidney cancers are characterized both by conserved oncogenic driver events and by marked intratumor genetic and phenotypic heterogeneity, which help drive tumor progression, metastasis, and resistance to therapy. How these are reflected in transcriptional programs within the cancer and stromal cell components remains an important question with the potential to drive novel therapeutic approaches to treating cancer. To better understand these programs, we perform single-cell transcriptomics on 75 multi-regional biopsies from kidney tumors and normal kidney.
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