Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders-Reference-Cited by-同舟云学术

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Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

Published:2012-07-26 Issue:10 Volume:57 Page:621-632
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Rabbani Bahareh,Mahdieh Nejat,Hosomichi Kazuyoshi,Nakaoka Hirofumi,Inoue Ituro

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg201291.pdf

Reference169 articles.

1. Green, E. D. & Guyer, M. S. Charting a course for genomic medicine from base pairs to bedside. Nature 470, 204–213 (2011).

2. Reich, D. E. & Lander, E. S. On the allelic spectrum of human disease. Trends Genet. 17, 502–510 (2001).

3. Lander, E. S. Initial impact of the sequencing of the human genome. Nature 470, 187–197 (2011).

4. Pritchard, J. K. Are rare variants responsible for susceptibility to complex diseases? Am. J. Hum. Genet. 69, 124–137 (2001).

5. Gorlov, I. P., Gorlova, O. Y., Sunyaev, S. R., Spitz, M. R. & Amos, C. I. Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. Am. J. Hum. Genet. 82, 100–112 (2008).

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