The Necessity for In Vivo Functional Analysis in Human Medical Genetics.
Main Article Content
Abstract
Approximately 50% of all congenital anomalies cannot be linked to any specific cause, but cost effective high throughput sequencing has emerged as an efficient strategy for identifying single nucleotide polymorphisms (SNPs) associated with disease. In many cases, there is not enough evidence to determine if these SNPs underlie disease. To bridge this gap in our understanding, advances in functional analyses are warranted. Several preclinical model systems are currently being utilized to provide such evidence, including the advantageous zebrafish embryo. While every system exhibits disadvantages and caveats, a new era of multidisciplinary research is emerging, which uses a broad spectrum of functional analysis tools. This approach will make it possible to identify potential therapeutic targets for both common and rare human disorders.
Article Details
How to Cite
QUINTANA, Anita M.
The Necessity for In Vivo Functional Analysis in Human Medical Genetics..
Medical Research Archives, [S.l.], v. 2, n. 8, nov. 2015.
ISSN 2375-1924.
Available at: <https://esmed.org/MRA/mra/article/view/393>. Date accessed: 25 apr. 2024.
Keywords
functional analysis, zebrafish, multiple congenital anomalies
Section
Review Articles
The Medical Research Archives grants authors the right to publish and reproduce the unrevised contribution in whole or in part at any time and in any form for any scholarly non-commercial purpose with the condition that all publications of the contribution include a full citation to the journal as published by the Medical Research Archives.
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