Last Posted: Aug 13, 2020
- Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses
KN James et al NPJ Genomic Medicine, August 11, 2020 - Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.
Sabo Aniko et al. Molecular genetics & genomic medicine 2020 Aug e1439 - Development of Customizable Implementation Guides to Support Clinical Adoption of Pharmacogenomics: Experiences of the Implementing GeNomics In pracTicE (IGNITE) Network.
Duong Benjamin Q et al. Pharmacogenomics and personalized medicine 2020 13217-226 - The Human Genome Project changed everything
RA Gibbs, Nat Rev Genetics, August 7, 2020 - Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing.
Ritelli Marco et al. Molecular genetics & genomic medicine 2020 Jul e1422 - Feasibility of high-throughput sequencing in clinical routine cancer care: lessons from the cancer pilot project of the France Genomic Medicine 2025 plan.
et al. ESMO open 2020 Jul 5(4) - Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
Cope Heidi et al. Molecular genetics & genomic medicine 2020 Jul e1397 - Exon-focused targeted oligonucleotide microarray design increases detection of clinically relevant variants across multiple NHS genomic centres.
Jezkova Jana et al. NPJ genomic medicine 2020 528 - [Current Status and Future Direction of Cancer Genomic Medicine in Japan].
Muto Manabu et al. Gan to kagaku ryoho. Cancer & chemotherapy 2020 Feb 47(2) 197-202 - Genetic testing and employer-sponsored wellness programs: An overview of current vendors, products, and practices.
McDonald Whitney S et al. Molecular genetics & genomic medicine 2020 Jul e1414
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