Results 101 to 110 of about 4,953,128 (334)

Scoping review and classification of deep learning in medical genetics.

Genetics in Medicine, 2022
S. L. Ledgister Hanchard, Michelle C Dwyer, Simon Liu, P. Hu, C. Tekendo-Ngongang, R. Waikel, D. Duong, B. Solomon   +7 more
semanticscholar   +1 more source

The Exome Clinic and the Role of Medical Genetics Expertise in Interpretation of Exome Sequencing Results

Genetics in Medicine, 2017
Purpose:Evaluation of the clinician’s role in the optimal interpretation of clinical exome sequencing (ES) results.Methods:Retrospective chart review of the first 155 patients who underwent clinical ES in our Exome Clinic and direct interaction with the ...
Dustin Baldridge, Jennifer Heeley, M. Vineyard, L. Manwaring, Tomi L. Toler, E. Fassi, E. Fiala, Sarah M. Brown, C. Goss, M. Willing, D. Grange, B. Kozel, M. Shinawi   +12 more
semanticscholar   +1 more source

Expression and DNA methylation of 20S proteasome subunits as prognostic and resistance markers in cancer

Molecular Oncology, EarlyView.
Comprehensive analysis of genomic mutations, gene expression, DNA methylation, and pathway analysis of TCGA data was carried out to define cancer types in which proteasome subunits expression is associated with worse survival. Albeit the effect of specific proteasome subunits on cellular function, the main role of the proteasome is better evaluated ...
Ruba Al‐Abdulla, Simone Venz, Ruslan Al‐Ali, Martin Wendlandt, Mandy Radefeldt, Elke Krüger   +5 more
wiley   +1 more source

Riscos e benefícios da triagem genética: o traço falciforme como modelo de estudo em uma população brasileira

Cadernos de Saúde Pública
A triagem populacional de heterozigotos assintomáticos para fins de orientação genética é um procedimento bastante controvertido, por envolver o risco de rotulação, discriminação, estigmatização, perda de auto-estima e invasão de privacidade. Assim sendo,
Roberto Benedito de Paiva e Silva, Antonio Sérgio Ramalho   +1 more
doaj  

Medical Genetics, Genomics and Bioinformatics-2022. [PDF]

Int J Mol Sci, 2023
Klimontov VV, Koshechkin KA, Orlova NG, Sekacheva MI, Orlov YL.   +4 more
europepmc   +1 more source

THE GENETICS OF NEUROLOGICAL DISORDERS (Oxford monographs on medical genetics.) [PDF]

, 1968
Raymond Hewer
openalex   +1 more source

Detecting homologous recombination deficiency for breast cancer through integrative analysis of genomic data

Molecular Oncology, EarlyView.
This study develops a semi‐supervised classifier integrating multi‐genomic data (1404 training/5893 validation samples) to improve homologous recombination deficiency (HRD) detection in breast cancer. Our method demonstrates prognostic value and predicts chemotherapy/PARP inhibitor sensitivity in HRD+ tumours.
Rong Zhu, Katherine Eason, Suet‐Feung Chin, Paul A. W. Edwards, Raquel Manzano Garcia, Richard Moulange, Jia Wern Pan, Soo Hwang Teo, Sach Mukherjee, Maurizio Callari, Carlos Caldas, Stephen‐John Sammut, Oscar M. Rueda   +12 more
wiley   +1 more source

Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2021
E. Spector, Andrea Behlmann, K. Kronquist, N. Rose, E. Lyon, H. Reddi   +5 more
semanticscholar   +1 more source

Data‐driven discovery of gene expression markers distinguishing pediatric acute lymphoblastic leukemia subtypes

Molecular Oncology, EarlyView.
This study investigates gene expression differences between two major pediatric acute lymphoblastic leukemia (ALL) subtypes, B‐cell precursor ALL, and T‐cell ALL, using a data‐driven approach consisting of biostatistics and machine learning methods. Following analysis of a discovery dataset, we find a set of 14 expression markers differentiating the ...
Mona Nourbakhsh, Nikola Tom, Anna Schrøder Lassen, Helene Brasch Lind Petersen, Ulrik Kristoffer Stoltze, Karin Wadt, Kjeld Schmiegelow, Matteo Tiberti, Elena Papaleo   +8 more
wiley   +1 more source

Elements of Medical Genetics [PDF]

, 1969
Alan E H Emery, Robert F. Mueller
openalex   +1 more source