[HTML][HTML] Clinical decision support: a 25 year retrospective and a 25 year vision
Objective: The objective of this review is to summarize the state of the art of clinical decision
support (CDS) circa 1990, review progress in the 25 year interval from that time, and provide …
support (CDS) circa 1990, review progress in the 25 year interval from that time, and provide …
[HTML][HTML] Reconciling evidence-based medicine and precision medicine in the era of big data: challenges and opportunities
JS Beckmann, D Lew - Genome medicine, 2016 - Springer
This era of groundbreaking scientific developments in high-resolution, high-throughput
technologies is allowing the cost-effective collection and analysis of huge, disparate …
technologies is allowing the cost-effective collection and analysis of huge, disparate …
[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 …
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
CJ Saunders, NA Miller, SE Soden… - Science translational …, 2012 - science.org
Monogenic diseases are frequent causes of neonatal morbidity and mortality, and disease
presentations are often undifferentiated at birth. More than 3500 monogenic diseases have …
presentations are often undifferentiated at birth. More than 3500 monogenic diseases have …
Finding the missing link for big biomedical data
It has been argued that big data will enable efficiencies and accountability in health care. 1,
2 However, to date, other industries have been far more successful at obtaining value from …
2 However, to date, other industries have been far more successful at obtaining value from …
Molecular pathological epidemiology of colorectal neoplasia: an emerging transdisciplinary and interdisciplinary field
Colorectal cancer is a complex disease resulting from somatic genetic and epigenetic
alterations, including locus-specific CpG island methylation and global DNA or LINE-1 …
alterations, including locus-specific CpG island methylation and global DNA or LINE-1 …
[HTML][HTML] Managing incidental findings and research results in genomic research involving biobanks and archived data sets
SM Wolf, BN Crock, B Van Ness, F Lawrenz… - Genetics in …, 2012 - nature.com
Biobanks and archived data sets collecting samples and data have become crucial engines
of genetic and genomic research. Unresolved, however, is what responsibilities biobanks …
of genetic and genomic research. Unresolved, however, is what responsibilities biobanks …
[HTML][HTML] Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time
JS Berg, MJ Khoury, JP Evans - Genetics in medicine, 2011 - nature.com
Technological advances often outpace our ability to effec-tively use them, a situation that
certainly could pertain to modern genomics. Breathtaking advances in genetic sequencing …
certainly could pertain to modern genomics. Breathtaking advances in genetic sequencing …
Managing incidental findings in human subjects research: analysis and recommendations
Researchers, institutional review boards (IRBs), participants in human subjects research,
and their families face an important but largely neglected problem—how should incidental …
and their families face an important but largely neglected problem—how should incidental …
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
Purpose Clinical sequencing emerging in health care may result in secondary findings
(SFs). Methods Seventy-four of 6240 (1.2%) participants who underwent genome or exome …
(SFs). Methods Seventy-four of 6240 (1.2%) participants who underwent genome or exome …