Genomic medicine for kidney disease
Technologies such as next-generation sequencing and chromosomal microarray have
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …
[HTML][HTML] Next generation sequencing and the future of genetic diagnosis
The introduction of next generation sequencing (NGS) has led to an exponential increase of
elucidated genetic causes in both extremely rare diseases and common but heterogeneous …
elucidated genetic causes in both extremely rare diseases and common but heterogeneous …
[HTML][HTML] Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies
MP Mackley, B Fletcher, M Parker, H Watkins… - Genetics in …, 2017 - Elsevier
Purpose As whole-exome sequencing (WES) and whole-genome sequencing (WGS) move
into routine clinical practice, it is timely to review data that might inform the debate regarding …
into routine clinical practice, it is timely to review data that might inform the debate regarding …
[HTML][HTML] A retrospective review of multiple findings in diagnostic exome sequencing: HalF. A. re distinct and halF. A. re overlapping diagnoses
ED Smith, K Blanco, SA Sajan, JM Hunter… - Genetics in …, 2019 - Elsevier
Purpose We evaluated clinical and genetic features enriched in patients with multiple
Mendelian conditions to determine which patients are more likely to have multiple potentially …
Mendelian conditions to determine which patients are more likely to have multiple potentially …
The Human Genome Project, and recent advances in personalized genomics
BJ Wilson, SG Nicholls - Risk management and healthcare policy, 2015 - Taylor & Francis
The language of “personalized medicine” and “personal genomics” has now entered the
common lexicon. The idea of personalized medicine is the integration of genomic risk …
common lexicon. The idea of personalized medicine is the integration of genomic risk …
Successful application of whole genome sequencing in a medical genetics clinic
D Bick, PC Fraser, MF Gutzeit, JM Harris… - Journal of pediatric …, 2017 - thieme-connect.com
A pilot program was initiated using whole genome sequencing (WGS) to diagnose
suspected genetic disorders in the Genetics Clinic at Children's Hospital of Wisconsin …
suspected genetic disorders in the Genetics Clinic at Children's Hospital of Wisconsin …
[HTML][HTML] Incidental findings with genomic testing: implications for genetic counseling practice
MI Roche, JS Berg - Current genetic medicine reports, 2015 - Springer
This paper summarizes the current controversies surrounding the identification and
disclosure of “incidental” or “secondary” findings from genomic sequencing and the …
disclosure of “incidental” or “secondary” findings from genomic sequencing and the …
Genetic testing in dementia—utility and clinical strategies
Techniques for clinical genetic testing in dementia disorders have advanced rapidly but
remain to be more widely implemented in practice. A positive genetic test offers a precise …
remain to be more widely implemented in practice. A positive genetic test offers a precise …
[PDF][PDF] Principles of genetic counseling in the era of next-generation sequencing
M Yang, JW Kim - Annals of laboratory medicine, 2018 - synapse.koreamed.org
Traditional genetic counseling has focused on the target gene and its natural progress with
respect to disease risk. Next-generation sequencing (NGS) can produce information on …
respect to disease risk. Next-generation sequencing (NGS) can produce information on …
Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature
J Delanne, S Nambot, A Chassagne, O Putois… - European Journal of …, 2019 - Elsevier
With the development of next generation sequencing, beyond identifying the cause of
manifestations that justified prescription of the test, other information with potential interest …
manifestations that justified prescription of the test, other information with potential interest …