Human genetics and clinical aspects of neurodevelopmental disorders

Lyon, Gholson J. and O'Rawe, Jason (2015) Human genetics and clinical aspects of neurodevelopmental disorders. In: The Genetics of Neurodevelopmental Disorders. Wiley, pp. 289-317.

[img]
Preview
PDF (Book Chapter Version 8)
Manuscript Lyon Version 8 05142014.pdf - Submitted Version
Available under License Creative Commons Attribution.

Download (902Kb) | Preview
[img]
Preview
PDF (Book Chapter Version 7)
Manuscript Lyon Version 7 01202014.pdf - Submitted Version
Available under License Creative Commons Attribution.

Download (1406Kb) | Preview
[img]
Preview
PDF (Book Chapter Version 5)
Manuscript Lyon Version 5 09272103.pdf - Submitted Version
Available under License Creative Commons Attribution.

Download (1408Kb) | Preview
[img]
Preview
PDF (Book Chapter Version 4)
Manuscript Lyon Version 4 08262103.pdf - Submitted Version
Available under License Creative Commons Attribution.

Download (1414Kb) | Preview
[img]
Preview
PDF (Book Chapter Version 3)
Manuscript Lyon Version 3 07242103.pdf - Updated Version
Available under License Creative Commons Attribution.

Download (516Kb) | Preview
[img]
Preview
PDF (Book Chapter Version 2)
Manuscript Lyon Version 2 06292103.pdf - Updated Version
Available under License Creative Commons Attribution.

Download (515Kb) | Preview
[img]
Preview
PDF (Book Chapter Version 1)
Manuscript Lyon Version 1 05192103.pdf - Submitted Version
Available under License Creative Commons Attribution.

Download (1320Kb) | Preview
URL: http://onlinelibrary.wiley.com/doi/10.1002/9781118...
DOI: 10.1002/9781118524947.ch13

Abstract

This chapter traverses contemporary understandings of the genetic architecture of human disease, and explores the clinical implications of the current state of knowledge. Many different classes of genetic mutations have been implicated as being involved in predisposition to certain diseases, and researchers are continually uncovering other means by which genetics plays an important role in human disease, such as with somatic genetic mosaicism. Putative “de novo” mutations can represent cases of parental mosaicism (including in the germline), which could be revealed by careful genotyping of parental tissues other than peripheral blood lymphocytes. There is an increasingly rich literature regarding rare mutations with seemingly large phenotypic effects. Privacy concerns have added to the difficulties of implementing genomics-guided medicine. With the advent of exome and whole genome sequencing (WGS), one needs to focus again on families over several generations, so as to attempt to minimize genetic differences, locus heterogeneity and environmental influences.

Item Type: Book Section
Subjects: diseases & disorders
bioinformatics > genomics and proteomics > genetics & nucleic acid processing
bioinformatics > genomics and proteomics
diseases & disorders > mental disorders > genetic disorders
CSHL Authors:
Communities: CSHL labs > Lyon lab
Depositing User: Matt Covey
Date Deposited: 03 Jun 2013 13:44
Last Modified: 17 Aug 2015 16:11
URI: http://repository.cshl.edu/id/eprint/28355

Actions (login required)

View Item View Item
CSHL HomeAbout CSHLResearchEducationNews & FeaturesCampus & Public EventsCareersGiving