Results 131 to 140 of about 90,363 (315)

Type 1 diabetes genetic risk score variation across ancestries using whole genome sequencing and array-based approaches

Scientific Reports
A Type 1 Diabetes Genetic Risk Score (T1DGRS) aids diagnosis and prediction of Type 1 Diabetes (T1D). While traditionally derived from imputed array genotypes, Whole Genome Sequencing (WGS) provides a more direct approach and is now increasingly used in ...
Ankit M. Arni, Diane P. Fraser, Seth A. Sharp, Richard A. Oram, Matthew B. Johnson, Michael N. Weedon, Kashyap A. Patel   +6 more
doaj   +1 more source

Is Boiling Bitter Greens a Legacy of Ancient Crete? Contemporary Foraging in the Minoan Refugium of the Lasithi Plateau

Foods
Wild greens (WGs) play a significant role in Mediterranean diets (MDs), reflecting botanical and cultural diversities, mainly influenced by a complex conglomerate of local human ecologies.
Mousaab Alrhmoun, Naji Sulaiman, Shiekh Marifatul Haq, Syed Abidullah, Julia Prakofjewa, Nikos Krigas, Andrea Pieroni, Renata Sõukand   +7 more
doaj   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

A machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unit

npj Digital Medicine
The Mendelian Phenotype Search Engine (MPSE), a clinical decision support tool using Natural Language Processing and Machine Learning, helped neonatologists expedite decisions to whole genome sequencing (WGS) to diagnose patients in the neonatal ...
Edwin F. Juarez, Bennet Peterson, Erica Sanford Kobayashi, Sheldon Gilmer, Laura E. Tobin, Brandan Schultz, Jerica Lenberg, Jeanne Carroll, Shiyu Bai-Tong, Nathaly M. Sweeney, Curtis Beebe, Lawrence Stewart, Lauren Olsen, Julie Reinke, Elizabeth A. Kiernan, Rebecca Reimers, Kristen Wigby, Chris Tackaberry, Mark Yandell, Charlotte Hobbs, Matthew N. Bainbridge   +20 more
doaj   +1 more source

Lung Cancer Patients Display Increased Expression of Bovine Meat and Milk Factor (BMMF) Proteins in Peritumor Alveolar Macrophages

International Journal of Cancer, EarlyView.
Plasmid‐like DNA sequences frequently found in bovine milk and serum have been proposed as infectious agents promoting indirect carcinogenesis. This multi‐omics study detected immune cells positive for these bovine meat and milk factors (BMMFs) in patients with lung cancer, with BMMF expression inversely correlated with smoking intensity.
Nives Cecere, Kristina Alikhanyan, Claudia Ernst, Lisa Häfele, Lars Feuerbach, Imke Grewe, Sumen Siqin, Karin Gunst, Gunjan Shukla, Veronika Frehtman, Claudia Tessmer, Florian Eichhorn, Michael Allgäuer, Alexander Brobeil, Ilse Hofmann, Barbara Leuchs, Marc A. Schneider, Timo Bund   +17 more
wiley   +1 more source

Evaluation of Mutation Risk Using Patient‐Derived Organoids in Patients With Lynch Syndrome

International Journal of Cancer, EarlyView.
ABSTRACT Lynch syndrome (LS) is a hereditary cancer predisposition syndrome caused by germline mutation of DNA mismatch repair (MMR) genes, most notably associated with colorectal cancer. Although LS patients face high risk of CRC, risk can vary even among those with the same pathogenic MMR germline mutations. We suggest a functional assay platform for
Youmi Shin, Dong Keon Kim, Yoojeong Seo, Hyeon Hee Lee, Jihye Park, Soo Jung Park, Jae Jun Park, Jae Hee Cheon, Jongwon Oh, Sanghoo Lee, Tae Il Kim   +10 more
wiley   +1 more source

Minimally Invasive Sampling for Molecular Profiling of Lymph Nodes Using a Modified Acupuncture Needle

iMetaMed, EarlyView.
Schematic illustration of the preparation of His@PDA@Needle, a modified acupuncture needle designed for minimally invasive sampling of lymph node‐derived DNA for molecular profiling. ABSTRACT Current clinical liquid biopsy approaches predominantly rely on blood‐derived biomarkers, which are often limited in sensitivity.
Baiping Cui, Mingyu Li, Pingzhu Zhou, Lihfeng Cheow, Hailong Ma, Dongdong Liu   +5 more
wiley   +1 more source

Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES

Scientific Reports
Whole genome sequencing (WGS) comprehensively detects DNA sequence variation, enabling assessment of genetic disorders. The primary aim of this study was to investigate the diagnostic utility of WGS for pediatric musculoskeletal disorders by comparing it
Awtum M. Brashear, Anxhela G. Gustafson, Andrew Quitadamo, Emily Evangelista, Daelyn Quinn, Samuel P. Strom, Holly L. Snyder, Mauro Longoni, Kamran Shazand   +8 more
doaj   +1 more source

Genetic Biomarkers in the Risk Assessment of Sudden Cardiac Events: A Personalized Approach

iNew Medicine, EarlyView.
Genetic insights into the risk assessment of sudden cardiac events. ABSTRACT Sudden cardiac events are the leading cause of death worldwide. Conventional risk stratification methods, which largely depend on clinical history, imaging, and electrocardiography, are usually inadequate for identifying high‐risk individuals, especially those without visible ...
Shrikant Verma, Sushma Verma, Mohammad Abbas, Tabrez Faruqui, Bashir Ahmad Mir, Farzana Mahdi   +5 more
wiley   +1 more source

MOLECULAR CHARACTERIZATION OF PLASMIDS CARRYING AMPC Β-LACTAMASES (AMPCs) AND EXTENDED-SPECTRUM Β-LACTAMASE (ESBLs) GENES USING HYBRID GENOME ASSEMBLY ANALYSIS. [PDF]

openTo improve the ambiguity that short-read data often gives for plasmids genetic elements characterization, the hybrid assembly of whole genome sequences (WGS) belonging to Escherichia coli strains obtained by using two different platforms, namely ...
ORTEGA RAMÍREZ, JAZMÍN ALEJANDRA
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