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Genetic Analysis of Limb Malformation Disorders: Freeman Sheldon Syndrome Exome Sequencing Study (LMD-FSS)

ABSTRACT:

The overall goal of this project is to investigate the etiology and pathogenesis of malformations (i.e., birth defects) of the limb, concentrating on abnormalities of limb patterning such as limb deficiency/duplications and multiple congenital contractures.

The exome sequences of four unrelated individuals were obtained by massively parallel DNA sequencing. The three individuals were affected with Freeman Sheldon syndrome (OMIM: 193700).

PROVIDER: phs000204.v1.p1 | EGA |

REPOSITORIES: EGA

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Targeted capture and massively parallel sequencing of 12 human exomes.

Ng Sarah B SB Turner Emily H EH Robertson Peggy D PD Flygare Steven D SD Bigham Abigail W AW Lee Choli C Shaffer Tristan T Wong Michelle M Bhattacharjee Arindam A Eichler Evan E EE Bamshad Michael M Nickerson Deborah A DA Shendure Jay J

Nature 20090816 7261

Genome-wide association studies suggest that common genetic variants explain only a modest fraction of heritable risk for common diseases, raising the question of whether rare variants account for a significant fraction of unexplained heritability. Although DNA sequencing costs have fallen markedly, they remain far from what is necessary for rare and novel variants to be routinely identified at a genome-wide scale in large cohorts. We have therefore sought to develop second-generation methods fo ...[more]

PMID: 19684571

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