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

The complete sequence of human chromosome 5

Chromosome 5 is one of the largest human chromosomes yet has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of noncoding and syntenic conservation with non-mammalian vertebrates, suggesting they are functionally constrained. In total, we compiled 177.7 million base pairs of highly accurate finished sequence containing 923 manually curated protein-encoding genes including the protocadherin and interleukin gene families and the first complete versions of each of the large chromosome 5 specific internal duplications. These duplications are very recent evolutionary events and play a likely mechanistic role, since deletions of these regions are the cause of debilitating disorders including spinal muscular atrophy (SMA)

Does visualization enhance complex problem solving? The effect of causal mapping on performance in the computer-based microworld Tailorshop

Abstract Causal mapping is often recognized as a technique to support strategic decisions and actions in complex problem situations. Such drawing of causal structures is supposed to particularly foster the understanding of the interaction of the various system elements and to further encourage holistic thinking. It builds on the idea that humans make use of mental maps to represent their environment and to make predictions about it. However, a profound theoretical underpinning and empirical research of the effects of causal mapping on problem solving is missing. This study compares a causal mapping approach with more common problem solving techniques utilizing the standardized computer-simulated microworld Tailorshop. Results show that causal mapping leads to a worse performance in managing the Tailorshop and was not associated with increased knowledge about the underlying system's structure. We conclude that the successful representation of the causal structure and the control of a complex scenario require the concerted interplay of cognitive skills that go beyond drawing causal maps

The impact of COVID-19 related lockdown measures on self-reported psychopathology and health-related quality of life in German adolescents

The impact of school-closings on adolescents' mental health and well-being in the management of the ongoing COVID-19 pandemic is subject to ongoing public debate. Reliable data to inform a balanced discussion are limited. Drawing on a large ongoing multi-site project in Germany, we assessed differences in self-reported psychopathology in a matched convenience-sample of adolescents assessed pre- (November 26, 2018 to March 13, 2020; n = 324) and post the first lockdown (March 18, 2020 to August 29, 2020; n = 324) early 2020 in Germany. We found no evidence for an increase in emotional and behavioral problems, depression, thoughts of suicide or suicide attempts, eating disorder symptoms, or a decrease in general health-related quality of life. Reported suicide plans significantly decreased from 6.14 to 2.16%. Similarly, conduct problems decreased in the post-lockdown period. Family risk-factors did not moderate these findings. The influence of socioeconomic status on emotional and behavioral problems as well as depression decreased during the lockdown. Based on the present findings, the first school-closing in Germany had no immediate and severe impact on adolescents' well-being. However, caution is warranted as our data covers a fairly small, affluent sample over a limited time-span and long-term consequences cannot be ruled out

The complete sequence of human chromosome 5

Chromosome 5 is one of the largest human chromosomes yet has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of noncoding and syntenic conservation with non-mammalian vertebrates, suggesting they are functionally constrained. In total, we compiled 177.7 million base pairs of highly accurate finished sequence containing 923 manually curated protein-encoding genes including the protocadherin and interleukin gene families and the first complete versions of each of the large chromosome 5 specific internal duplications. These duplications are very recent evolutionary events and play a likely mechanistic role, since deletions of these regions are the cause of debilitating disorders including spinal muscular atrophy (SMA)

The DNA sequence and comparative analysis of human chromosome 5

Chromosome 5 is one of the largest human chromosomes yet has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of noncoding and syntenic conservation with non-mammalian vertebrates, suggesting they are functionally constrained. In total, we compiled 177.7 million base pairs of highly accurate finished sequence containing 923 manually curated protein-encoding genes including the protocadherin and interleukin gene families and the first complete versions of each of the large chromosome 5 specific internal duplications. These duplications are very recent evolutionary events and play a likely mechanistic role, since deletions of these regions are the cause of debilitating disorders including spinal muscular atrophy (SMA)