Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Guided participation and parental tutoring in preschool children with autism: A pilot study of Relationship Development Intervention (RDI)

The guided participation relationship between parents and children, whereby parents sensitively support the child’s emerging abilities, is central to child development. However, difficulties with intersubjective engagement characteristic of autism can make supportive interactions between parents and children more challenging. In this study, we compared dyads of parents and children with autism (n = 16) and dyads of parents and children with other developmental disabilities (n = 14) on two coding schemes, the Dyadic Coding Scales (DCS) and a Parent Scaffolding coding scheme. Consistent with expectations, the ASD group showed more difficulties in parent–child engagement on the DCS. Although autistic children were more likely to resist parental input on the Parent Scaffolding task, their parents were equally as sensitive as those in the developmental disabilities group. Child factors on the Parent Scaffolding coding scheme were associated with DCS scores. Half (n = 8) of the children with autism received an academic school year-long modified version of Relationship Development Intervention delivered in a preschool setting, and all children with autism (n = 16) were re-assessed at the end of the preschool year. The dyads who had received RDI showed improvements in parent–child engagement on the DCS, both compared to baseline and compared to the group who did not receive the intervention. No changes in Parent Scaffolding were found. The results are discussed in relation to intervention priorities for children with autism