Calibrating variant curation by clinical context based on factors that influence patients' tolerance of uncertainty
AH Trainer, E Goode, CN Hoskins, JCW Wheeler… - Genetics in …, 2023 - Elsevier
Purpose Shared decision making manages genomic uncertainty by integrating molecular
and clinical uncertainties with patient values to craft a person-centered management plan …
and clinical uncertainties with patient values to craft a person-centered management plan …
R2ROC: An efficient method of comparing two or more correlated AUC from out-of-sample prediction using polygenic scores
Polygenic risk scores (PRSs) enable early prediction of disease risk. Evaluating PRS
performance for binary traits commonly relies on the area under the receiver operating …
performance for binary traits commonly relies on the area under the receiver operating …
A pediatric perspective on genomics and prevention in the twenty-first century
We present evidence from diverse disciplines and populations to identify the current and
emerging role of genomics in prevention from both medical and public health perspectives …
emerging role of genomics in prevention from both medical and public health perspectives …
A pathway to precision medicine for Aboriginal Australians: a study protocol
(1) Background: Genomic precision medicine (PM) utilises people's genomic data to inform
the delivery of preventive and therapeutic health care. PM has not been well-established for …
the delivery of preventive and therapeutic health care. PM has not been well-established for …
Biocompatible Osmium Telluride-Polypyrrole Nanocomposite Material: Application in Prostate Specific Antigen Immunosensing
Prostate cancer is a dominant global threat to society. It affects nearly 4000 men in South
Africa annually, making it the second most threatening cancerous disease after lung cancer …
Africa annually, making it the second most threatening cancerous disease after lung cancer …
[HTML][HTML] Investigación e innovación biomédica ante la sindemia por COVID-19. Informe SESPAS 2022
JA Ojeda - Gaceta Sanitaria, 2022 - Elsevier
Objetivo Describir críticamente la respuesta en investigación e innovación (I+ I) contra la
sindemia por COVID-19 en el ámbito nacional, contextualizada internacionalmente. Método …
sindemia por COVID-19 en el ámbito nacional, contextualizada internacionalmente. Método …
[HTML][HTML] Об обусловленности уголовно-правовой охраны генетического достоинства
ИЯ Козаченко, ЕЕ Мелюханова - Всероссийский …, 2021 - cyberleninka.ru
В статье дана попытка обоснования необходимости уголовно-правовой охраны
генетического достоинства. В последние годы, ставшие поистине «прорывными» в …
генетического достоинства. В последние годы, ставшие поистине «прорывными» в …
[HTML][HTML] Next-generation Sequencing in Newborn Screening: A Review on Clinical and Economic Prospects
AK Mittal, DS Shekhawat… - The Open …, 2023 - openbiotechnologyjournal.com
Next-generation sequencing (NGS) technology has revamped the area of genetics with
improve the sequence of a substantial number of genes with high accuracy and short turn …
improve the sequence of a substantial number of genes with high accuracy and short turn …
The utility of genomic testing for hyperphenylalaninemia
EA Tendi, M Guarnaccia, G Morello… - Journal of Clinical …, 2022 - mdpi.com
Hyperphenylalaninemia (HPA), the most common amino acid metabolism disorder, is
caused by defects in enzymes involved in phenylalanine metabolism, with the consequent …
caused by defects in enzymes involved in phenylalanine metabolism, with the consequent …
Законодательное регулирование и использование генетической информации в РФ и за рубежом
МА Вульф, КА Юрова, ДА Скуратовская… - Гены и …, 2019 - cyberleninka.ru
В современной медицине все большее значение приобретают персонализированные
подходы к диагностике, профилактике и лечению заболеваний. Накопленная …
подходы к диагностике, профилактике и лечению заболеваний. Накопленная …