Ontology highlight
ABSTRACT:
SUBMITTER: Roach JC
PROVIDER: S-EPMC3037280 | biostudies-literature | 2010 Apr
REPOSITORIES: biostudies-literature
Science (New York, N.Y.) 20100310 5978
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 approximately 1.1 x 10(-8) per position per haploid genome. Both offspring in this family have two recessive disorders ...[more]