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      Analysis of genetic inheritance in a family quartet by whole-genome sequencing.

      Science (New York, N.Y.)

      Abnormalities, Multiple, genetics, Algorithms, Alleles, Axonemal Dyneins, Ciliary Motility Disorders, Crossing Over, Genetic, Female, Genes, Dominant, Genes, Recessive, Genetic Association Studies, Genome, Human, Humans, Inheritance Patterns, Limb Deformities, Congenital, Male, Mandibulofacial Dysostosis, Mutation, Nuclear Family, Oxidoreductases Acting on CH-CH Group Donors, Pedigree, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, Syndrome

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          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 approximately 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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          Author and article information

          Journal
          20220176
          3037280
          10.1126/science.1186802

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