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The Clinical Next-Generation Sequencing Database: A Tool for the Unified
Management of Clinical Information and Genetic Variants to Accelerate Variant
Pathogenicity Classification
#MMPMID28008688
Nishio SY
; Usami SI
Hum Mutat
2017[Mar]; 38
(3
): 252-259
PMID28008688
show ga
Recent advances in next-generation sequencing (NGS) have given rise to new
challenges due to the difficulties in variant pathogenicity interpretation and
large dataset management, including many kinds of public population databases as
well as public or commercial disease-specific databases. Here, we report a new
database development tool, named the "Clinical NGS Database," for improving
clinical NGS workflow through the unified management of variant information and
clinical information. This database software offers a two-feature approach to
variant pathogenicity classification. The first of these approaches is a
phenotype similarity-based approach. This database allows the easy comparison of
the detailed phenotype of each patient with the average phenotype of the same
gene mutation at the variant or gene level. It is also possible to browse
patients with the same gene mutation quickly. The other approach is a statistical
approach to variant pathogenicity classification based on the use of the odds
ratio for comparisons between the case and the control for each inheritance mode
(families with apparently autosomal dominant inheritance vs. control, and
families with apparently autosomal recessive inheritance vs. control). A number
of case studies are also presented to illustrate the utility of this database.
free
free
free
