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Title:
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
Authors:
Roach, Jared C.; Glusman, Gustavo; Smit, Arian F. A.; Huff, Chad D.; Hubley, Robert; Shannon, Paul T.; Rowen, Lee; Pant, Krishna P.; Goodman, Nathan; Bamshad, Michael; Shendure, Jay; Drmanac, Radoje; Jorde, Lynn B.; Hood, Leroy; Galas, David J.
Affiliation:
AA(Institute for Systems Biology, Seattle, WA 98103, USA.), AB(Institute for Systems Biology, Seattle, WA 98103, USA.), AC(Institute for Systems Biology, Seattle, WA 98103, USA.), AD(Institute for Systems Biology, Seattle, WA 98103, USA.; Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84109, USA.), AE(Institute for Systems Biology, Seattle, WA 98103, USA.), AF(Institute for Systems Biology, Seattle, WA 98103, USA.), AG(Institute for Systems Biology, Seattle, WA 98103, USA.), AH(Complete Genomics, Inc. (CGI), Mountain View, CA 94043, USA.), AI(Institute for Systems Biology, Seattle, WA 98103, USA.), AJ(Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.), AK(Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.), AL(Complete Genomics, Inc. (CGI), Mountain View, CA 94043, USA.), AM(Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84109, USA.), AN(Institute for Systems Biology, Seattle, WA 98103, USA.), AO(Institute for Systems Biology, Seattle, WA 98103, USA.)
Publication:
Science, Volume 328, Issue 5978, pp. 636- (2010). (Sci Homepage)
Publication Date:
04/2010
Category:
GENETICS
Origin:
SCIENCE
Abstract Copyright:
(c) 2010: Science
DOI:
10.1126/science.1186802
Bibliographic Code:
2010Sci...328..636R

Abstract

We analyzed the whole-genome sequences of a family of four, consisting of two siblings and their parents. Family-based sequencing allowed us to delineate recombination sites precisely, identify 70% of the sequencing errors (resulting in > 99.999% accuracy), and identify very rare single-nucleotide polymorphisms. We also directly estimated a human intergeneration mutation rate of ~1.1 × 10-8 per position per haploid genome. Both offspring in this family have two recessive disorders: Miller syndrome, for which the gene was concurrently identified, and primary ciliary dyskinesia, for which causative genes have been previously identified. Family-based genome analysis enabled us to narrow the candidate genes for both of these Mendelian disorders to only four. Our results demonstrate the value of complete genome sequencing in families.
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