Results 201 to 210 of about 1,395,753 (295)

SV4GD: a comprehensive structural variation database specially for genetic diseases. [PDF]

Nucleic Acids Res
Shi L, Zhang S, Li Y, Li H, Wang X, Du M, Zhang M, Ke L, Zhang Y, Xu C, Tan S, Zhang Z, Zhang D, Wang J, Qi C, Liu X, Wang X, Qian K, Cheng L, Zhang X.   +19 more
europepmc   +1 more source

Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs

, 2018
Jonas Donner, Heidi Anderson, Stephen Davison, Angela M. Hughes, Julia Bouirmane, Johan Lindqvist, Katherine M. Lytle, Balasubramanian Ganesan, Claudia Ottka, Päivi Ruotanen, Maria Kaukonen, Oliver P. Forman, Neale Fretwell, Cynthia A. Cole, Hannes Lohi   +14 more
openalex   +2 more sources

Methylation biomarkers can distinguish pleural mesothelioma from healthy pleura and other pleural pathologies

Molecular Oncology, EarlyView.
We developed and validated a DNA methylation–based biomarker panel to distinguish pleural mesothelioma from other pleural conditions. Using the IMPRESS technology, we translated this panel into a clinically applicable assay. The resulting two classifier models demonstrated excellent performance, achieving high AUC values and strong diagnostic accuracy.
Janah Vandenhoeck, Nele De Meulenaere, Thomas Vanpoucke, Joe Ibrahim, Dieter Peeters, Suresh Krishan Yogeswaran, Wen Wen, Paul Van Schil, Jeroen M. H. Hendriks, Jo Raskin, Jan van Meerbeeck, Guy Van Camp, Ken Op de Beeck   +12 more
wiley   +1 more source

Electronic health records-based algorithms to screen for U.S. Centers for Disease Control and Prevention tier 1 genetic diseases: a scoping review. [PDF]

J Am Med Inform Assoc
Harris WR, Hernandez MS, Ngo KNH, Fladger A, Brunette CA, Hamarneh SR, Knowles JW, Lebo MS, Vassy JL.   +8 more
europepmc   +1 more source

AB0009 Genetic association of mitochondrial dna polymorphisms with behÇet's disease in a korean population [PDF]

, 2018
Mi‐Hye Kwon, Chung‐Il Joung, Su‐Jin Yoo, Seong Wook Kang, In Seol Yoo, Jin‐Man Kim, In Ah Choi, Myung-Jae Lim   +7 more
openalex   +1 more source

Strength through diversity: how cancers thrive when clones cooperate

Molecular Oncology, EarlyView.
Intratumor heterogeneity can offer direct benefits to the tumor through cooperation between different clones. In this review, Kuiken et al. discuss existing evidence for clonal cooperativity to identify overarching principles, and highlight how novel technological developments could address remaining open questions.
Marije C. Kuiken, Maartje Witsen, Emile E. Voest, Krijn K. Dijkstra   +3 more
wiley   +1 more source

Selected Monogenic Genetic Diseases in Holstein Cattle-A Review. [PDF]

Genes (Basel)
Gozdek M, Mucha S, Prostek A, Sadkowski T.   +3 more
europepmc   +1 more source

Detection of circulating tumor DNA in colorectal cancer patients using a methylation‐specific droplet digital PCR multiplex

Molecular Oncology, EarlyView.
We developed a cost‐effective methylation‐specific droplet digital PCR multiplex assay containing tissue‐conserved and tumor‐specific methylation markers. The assay can detect circulating tumor DNA with high accuracy in patients with localized and metastatic colorectal cancer.
Luisa Matos do Canto, Louise Raunkilde, Jan Lindebjerg, Mads Malik Aagaard, Christina Therkildsen, Jakob Kleif, Lars Henrik Jensen, Torben Frøstrup Hansen, Rikke Fredslund Andersen   +8 more
wiley   +1 more source

Knowledge and attitudes about rare genetic diseases among practitioners of oral medicine/pathology in Brazil: a cross-sectional study. [PDF]

Front Oral Health
Trezena S, Martelli DRB, Bonan PRF, Graner E, Sobrinho LMF, Alawi F, Coletta RD, Martelli-Júnior H.   +7 more
europepmc   +1 more source

Perspectives in educating molecular pathologists on liquid biopsy: Toward integrative, equitable, and decentralized precision oncology

Molecular Oncology, EarlyView.
Liquid biopsy enables minimally invasive, real‐time molecular profiling through analysis of circulating biomarkers in biological fluids. This Perspective highlights the importance of training pathologists through integrative educational programs, such as the European Masters in Molecular Pathology, to ensure effective and equitable implementation of ...
Marius Ilié, Umberto Malapelle, Catherine Alix‐Panabières, Claus Lindbjerg Andersen, Sandra Chlebowski, Vivien Lake, Caroline Lacoux, Virginie Lespinet‐Fabre, Olivier Bordone, Simon Heeke, Christophe Bontoux, Ellen Heitzer, Klaus Pantel, Paul Hofman   +13 more
wiley   +1 more source