Personalized early detection and prevention of breast cancer: ENVISION consensus statement

N Pashayan, AC Antoniou, U Ivanus… - Nature reviews Clinical …, 2020 - nature.com
Abstract The European Collaborative on Personalized Early Detection and Prevention of
Breast Cancer (ENVISION) brings together several international research consortia working …

Next-generation sequencing in the clinic: are we ready?

LG Biesecker, W Burke, I Kohane, SE Plon… - Nature Reviews …, 2012 - nature.com
We are entering an era in which the cost of clinical whole-genome and targeted sequencing
tests is no longer prohibitive to their application. However, currently the infrastructure is not …

[图书][B] Генетический паспорт–основа индивидуальной и предиктивной медицины

В Баранов - 2022 - books.google.com
В доступной форме в книге изложены основные события, произошедшие в
медицинской генетике и в молекулярной медицине после расшифровки генома …

Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial …

P Charron, M Arad, E Arbustini, C Basso… - European heart …, 2010 - academic.oup.com
Advances in molecular genetics present new opportunities and challenges for cardiologists
who manage patients and families with cardiomyopathies. The aims of this position …

Neuroimaging-based pain biomarkers: definitions, clinical and research applications, and evaluation frameworks to achieve personalized pain medicine

S Mackey, HT Greely, KT Martucci - Pain reports, 2019 - journals.lww.com
One of the key ambitions of neuroimaging-based pain biomarker research is to augment
patient and clinician reporting of clinically relevant phenomena with neural measures for …

[HTML][HTML] Good laboratory practices for molecular genetic testing for heritable diseases and conditions

B Chen, M Gagnon, S Shahangian, NL Anderson… - MMWR Recomm …, 2009 - cdc.gov
Summary Under the Clinical Laboratory Improvement Amendments of 1988 (CLIA)
regulations, laboratory testing is categorized as waived (from routine regulatory oversight) or …

Renal tract malformations: perspectives for nephrologists

L Kerecuk, MF Schreuder, AS Woolf - Nature clinical practice …, 2008 - nature.com
Renal tract malformations are congenital anomalies of the kidneys and/or lower urinary tract.
One challenging feature of these conditions is that they can present not only prenatally but …

How is genetic testing evaluated? A systematic review of the literature

E Pitini, C De Vito, C Marzuillo, E D'Andrea… - European Journal of …, 2018 - nature.com
Given the rapid development of genetic tests, an assessment of their benefits, risks, and
limitations is crucial for public health practice. We performed a systematic review aimed at …

Understanding polygenic models, their development and the potential application of polygenic scores in healthcare

CB de Villiers, M Kroese, S Moorthie - Journal of medical genetics, 2020 - jmg.bmj.com
The use of genomic information to better understand and prevent common complex
diseases has been an ongoing goal of genetic research. Over the past few years, research …

[图书][B] Genetic testing: accounts of autonomy, responsibility and blame

M Arribas-Ayllon, S Sarangi, A Clarke - 2013 - taylorfrancis.com
Advances in molecular genetics have led to the increasing availability of genetic testing for a
variety of inherited disorders. While this new knowledge presents many obvious health …