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

Adolescent Depression: Differential Symptom Presentations In Deaf And Hard-Of-Hearing Youth Using The Patient Health Questionnaire-9

The present study examined differences in symptom presentation in screening for pediatric depression via evaluation of the Patient Health Questionnaire-9 (PHQ-9). In particular, we examined whether PHQ-9 items function differentially among deaf and hard-of-hearing (DHH; n = 75) and hearing (n = 75) youth based on participants recruited from crisis assessment services. Multiple indicators multiple causes models were used to examine whether items of the PHQ-9 functioned differently between groups as well as whether there were group differences in the mean severity of depressive symptoms. Results indicate that DHH youth were more likely to endorse psychosomatic items, and less likely to endorse an affective item. These findings indicate that the PHQ-9 functions differently when used with DHH youth. Implications of these findings are discussed, including both for future work with the PHQ-9 and with regard to the conceptualization of depression across hearing groups