Paediatric genomics: diagnosing rare disease in children
CF Wright, DR FitzPatrick, HV Firth - Nature Reviews Genetics, 2018 - nature.com
The majority of rare diseases affect children, most of whom have an underlying genetic
cause for their condition. However, making a molecular diagnosis with current technologies …
cause for their condition. However, making a molecular diagnosis with current technologies …
Personalized medicine and the power of electronic health records
NS Abul-Husn, EE Kenny - Cell, 2019 - cell.com
Personalized medicine has largely been enabled by the integration of genomic and other
data with electronic health records (EHRs) in the United States and elsewhere. Increased …
data with electronic health records (EHRs) in the United States and elsewhere. Increased …
[HTML][HTML] Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
CF Wright, TW Fitzgerald, WD Jones, S Clayton… - The Lancet, 2015 - thelancet.com
Background Human genome sequencing has transformed our understanding of genomic
variation and its relevance to health and disease, and is now starting to enter clinical …
variation and its relevance to health and disease, and is now starting to enter clinical …
A Belmont reboot: Building a normative foundation for human research in the 21st century
KB Brothers, SM Rivera, RJ Cadigan… - The Journal of Law …, 2019 - journals.sagepub.com
Over the past decade, scientists and ethicists began to feel that existing regulations for
oversight of human research did not align well with emerging practices and technologies …
oversight of human research did not align well with emerging practices and technologies …
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
RC Green, JS Berg, WW Grody, SS Kalia, BR Korf… - Genetics in …, 2013 - nature.com
In clinical exome and genome sequencing, there is a potential for the recognition and
reporting of incidental or secondary findings unrelated to the indication for ordering the …
reporting of incidental or secondary findings unrelated to the indication for ordering the …
Return of genomic results to research participants: the floor, the ceiling, and the choices in between
GP Jarvik, LM Amendola, JS Berg, K Brothers… - The American Journal of …, 2014 - cell.com
As more research studies incorporate next-generation sequencing (including whole-
genome or whole-exome sequencing), investigators and institutional review boards face …
genome or whole-exome sequencing), investigators and institutional review boards face …
[HTML][HTML] Genetic studies of quantitative MCI and AD phenotypes in ADNI: Progress, opportunities, and plans
Introduction Genetic data from the Alzheimer's Disease Neuroimaging Initiative (ADNI) have
been crucial in advancing the understanding of Alzheimer's disease (AD) pathophysiology …
been crucial in advancing the understanding of Alzheimer's disease (AD) pathophysiology …
Reflections on dynamic consent in biomedical research: the story so far
HJA Teare, M Prictor, J Kaye - European journal of human genetics, 2021 - nature.com
Dynamic consent (DC) was originally developed in response to challenges to the informed
consent process presented by participants agreeing to 'future research'in biobanking. In the …
consent process presented by participants agreeing to 'future research'in biobanking. In the …
Broad consent versus dynamic consent in biobank research: is passive participation an ethical problem?
KS Steinsbekk, B Kåre Myskja, B Solberg - European Journal of Human …, 2013 - nature.com
In the endeavour of biobank research there is dispute concerning what type of consent and
which form of donor–biobank relationship meet high ethical standards. Up until now, a …
which form of donor–biobank relationship meet high ethical standards. Up until now, a …
Biobanking past, present and future: responsibilities and benefits
YG De Souza, JS Greenspan - Aids, 2013 - journals.lww.com
The review explores the field of biobanking as it has evolved from a simple collection of
frozen specimens to the virtual biobank. Biorepository and biospecimen science has …
frozen specimens to the virtual biobank. Biorepository and biospecimen science has …