Global kidney health 2017 and beyond: a roadmap for closing gaps in care, research, and policy
The global nephrology community recognises the need for a cohesive plan to address the
problem of chronic kidney disease (CKD). In July, 2016, the International Society of …
problem of chronic kidney disease (CKD). In July, 2016, the International Society of …
[HTML][HTML] Genetic testing in neurodevelopmental disorders
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
[HTML][HTML] A framework for enhancing ethical genomic research with Indigenous communities
Integration of genomic technology into healthcare settings establishes new capabilities to
predict disease susceptibility and optimize treatment regimes. Yet, Indigenous peoples …
predict disease susceptibility and optimize treatment regimes. Yet, Indigenous peoples …
Review of clinical next-generation sequencing
S Yohe, B Thyagarajan - Archives of pathology & …, 2017 - meridian.allenpress.com
Context.—Next-generation sequencing (NGS) is a technology being used by many
laboratories to test for inherited disorders and tumor mutations. This technology is new for …
laboratories to test for inherited disorders and tumor mutations. This technology is new for …
[HTML][HTML] 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] Towards accurate and reliable resolution of structural variants for clinical diagnosis
Structural variants (SVs) are a major source of human genetic diversity and have been
associated with different diseases and phenotypes. The detection of SVs is difficult, and a …
associated with different diseases and phenotypes. The detection of SVs is difficult, and a …
[HTML][HTML] Genomic diagnosis for children with intellectual disability and/or developmental delay
KM Bowling, ML Thompson, MD Amaral, CR Finnila… - Genome medicine, 2017 - Springer
Background Developmental disabilities have diverse genetic causes that must be identified
to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 …
to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 …
[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] Consideration of cosegregation in the pathogenicity classification of genomic variants
GP Jarvik, BL Browning - The American Journal of Human Genetics, 2016 - cell.com
The American College of Medical Genetics and Genomics (ACMG) and Association of
Molecular Pathology (AMP) recently published important new guidelines aiming to improve …
Molecular Pathology (AMP) recently published important new guidelines aiming to improve …
[HTML][HTML] Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar
SM Harrison, JS Dolinsky, AE Knight Johnson… - Genetics in …, 2017 - nature.com
Purpose: Data sharing through ClinVar offers a unique opportunity to identify interpretation
differences between laboratories. As part of a ClinGen initiative, four clinical laboratories …
differences between laboratories. As part of a ClinGen initiative, four clinical laboratories …