Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing-Reference-Cited by-同舟云学术

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

Published:2010-04-30 Issue:5978 Volume:328 Page:636-639
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Roach Jared C.¹,Glusman Gustavo¹,Smit Arian F. A.¹,Huff Chad D.¹²,Hubley Robert¹,Shannon Paul T.¹,Rowen Lee¹,Pant Krishna P.³,Goodman Nathan¹,Bamshad Michael⁴,Shendure Jay⁵,Drmanac Radoje³,Jorde Lynn B.²,Hood Leroy¹,Galas David J.¹

Affiliation:

1. Institute for Systems Biology, Seattle, WA 98103, USA.

2. Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84109, USA.

3. Complete Genomics, Inc. (CGI), Mountain View, CA 94043, USA.

4. Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

5. Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.

Abstract

Runs in the Family The power to detect mutations involved in disease by genome sequencing is enhanced when combined with the ability to discover specific mutations that may have arisen between offspring and parents. Roach et al. (p. 636 , published online 10 March) present the sequence of a family with two offspring affected with two genetic disorders: Miller syndrome and primary ciliary dyskinesia. Sequence analysis of the children and their parents not only showed that the intergenerational mutation rate was lower than anticipated but also revealed recombination sites and the occurrence of rare polymorphisms.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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