Ecosystems monitoring powered by environmental genomics: a review of current strategies with an implementation roadmap

T Cordier, L Alonso‐Sáez… - Molecular …, 2021 - Wiley Online Library
A decade after environmental scientists integrated high‐throughput sequencing
technologies in their toolbox, the genomics‐based monitoring of anthropogenic impacts on …

[HTML][HTML] Library preparation for next generation sequencing: A review of automation strategies

JF Hess, TA Kohl, M Kotrová, K Rönsch… - Biotechnology …, 2020 - Elsevier
Next generation sequencing is in the process of evolving from a technology used for
research purposes to one which is applied in clinical diagnostics. Recently introduced high …

[HTML][HTML] Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980–2015: a systematic analysis for …

H Wang, M Naghavi, C Allen, RM Barber, ZA Bhutta… - The lancet, 2016 - thelancet.com
Background Improving survival and extending the longevity of life for all populations
requires timely, robust evidence on local mortality levels and trends. The Global Burden of …

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 …

The electronic medical records and genomics (eMERGE) network: past, present, and future

O Gottesman, H Kuivaniemi, G Tromp, WA Faucett… - Genetics in …, 2013 - nature.com
Abstract The Electronic Medical Records and Genomics Network is a National Human
Genome Research Institute–funded consortium engaged in the development of methods …

High-definition medicine

A Torkamani, KG Andersen, SR Steinhubl, EJ Topol - Cell, 2017 - cell.com
The foundation for a new era of data-driven medicine has been set by recent technological
advances that enable the assessment and management of human health at an …

Bringing genome-wide association findings into clinical use

TA Manolio - Nature Reviews Genetics, 2013 - nature.com
Genome-wide association studies (GWASs) have been heralded as a major advance in
biomedical discovery, having identified~ 2,000 robust associations with complex diseases …

Blueprint for cancer research: critical gaps and opportunities

LW Elmore, SF Greer, EC Daniels… - CA: A Cancer …, 2021 - Wiley Online Library
We are experiencing a revolution in cancer. Advances in screening, targeted and immune
therapies, big data, computational methodologies, and significant new knowledge of cancer …

Clinical implementation of pharmacogenomics for personalized precision medicine: barriers and solutions

ME Klein, MM Parvez, JG Shin - Journal of pharmaceutical sciences, 2017 - Elsevier
Clinical implementation of pharmacogenomics (PGx) leads to personalized medicine, which
improves the efficacy, safety, and cost-effectiveness of treatments. Although PGx-based …

Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment …

WT Shearer, E Dunn, LD Notarangelo… - Journal of allergy and …, 2014 - Elsevier
Background The approach to the diagnosis of severe combined immunodeficiency disease
(SCID) and related disorders varies among institutions and countries. Objectives The …