Journal
SCIENCE
Volume 328, Issue 5978, Pages 636-639Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1186802
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Funding
- University of Luxembourg-Institute for Systems Biology Program
- NIH, Center for Systems Biology [GM076547, RO1GM081083, R01HL094976, RZ1HG004749, RC2HG005608, R01HD048895]
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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 similar to 1.1 x 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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