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

A Qualitative Study of Supervisors\u27 Reflections on Providing Sanctioned Supervision

Sanctioned supervision, sometimes referred to as mandated supervision or professional monitoring, is intended to protect the public, reduce further counselor ethical/legal violations, and improve the professional practice of the counselor adjudicated for unprofessional behavior. Sanctioned supervision is a common remediation intervention required by state regulatory boards. However, there is a lack of research on the practice of sanctioned supervision and the perceptions of sanctioned supervisors. A qualitative research approach was used to better understand the experiences of four supervisors who provided sanctioned supervision within the past year as part of a state regulatory board remediation process. The main themes from the qualitative study included the following: supervisors finding the supervision process to be unique from traditional supervision, and supervisors experiencing ambivalence about the sanctioned supervision process. Practice considerations for supervisors providing sanctioned supervision are discussed

Supervisors’ Suggestions for Enhancing Counseling Regulatory Boards’ Sanctioned Supervision Practices

Regulatory board-sanctioned supervision is intended to enhance the practice of disciplined counselor licensees and to protect the public. A qualitative research design was used to assess the perceptions of four supervisors who provided board-sanctioned supervision. The themes greater board-generated communication and ethics-related considerations were identified. Suggestions for state counseling regulatory boards are discussed

Sleep-wake disorders, sexual dysfunctions, paraphilic disorders, and gender dysphoria

Practical guidance on selecting and applying treatments for clients who have mental disordersTreating Those with Mental Disorders: A Comprehensive Approach to Case Conceptualization and Treatment offers students and new counselors specific treatment planning, implementation, and intervention strategies in addition to background information on clinical issues and DSM-5 diagnoses and interventions.A strength-based framework for conceptualizing and treating clients guides students through the process of selecting and implementing treatments. Real-life examples illustrate how critical counseling concepts and approaches are applied in actual practice. Updated with current, evidence-based treatment techniques and a new chapter on culture and ethics, this highly practical resource empowers counselors to thoughtfully and deliberately help their clients tackle complex issues and difficulties

An inducible transposon mutagenesis approach for the intracellular human pathogen

is a prolific human pathogen that can cause serious long-term conditions if left untreated. Recent developments in genetics have opened the door to conducting targeted and random mutagenesis experiments to identify gene function. In the present study, an inducible transposon mutagenesis approach was developed for using a self-replicating vector to deliver the transposon-transposase cassette - a significant step towards our ultimate aim of achieving saturation mutagenesis of the genome. The low transformation efficiency of necessitated the design of a self-replicating vector carrying the transposon mutagenesis cassette (i.e. the Himar-1 transposon containing the beta lactamase gene as well as a hyperactive transposase gene under inducible control of the promoter system with the addition of a riboswitch). transformed with this vector (pSW2-RiboA-C9Q) were induced at 24 hours post-infection. Through dual control of transcription and translation, basal expression of transposase was tightly regulated to stabilise the plasmid prior to transposition. Here we present the preliminary sequencing results of transposon mutant pools of both biovars, using two plasmid-free representatives: urogenital strain SWFP- and the lymphogranuloma venereum isolate L2(25667R). DNA sequencing libraries were generated and analysed using Oxford Nanopore Technologies\u27 MinION technology. This enabled \u27proof of concept\u27 for the methods as an initial low-throughput screen of mutant libraries; the next step is to employ high throughput sequencing to assess saturation mutagenesis. This significant advance provides an efficient method for assaying gene function and will enable the identification of the essential gene set of . In the long-term, the methods described herein will add to the growing knowledge of chlamydial infection biology leading to the discovery of novel drug or vaccine targets

Assembly of 43 human Y chromosomes reveals extensive complexity and variation.

The prevalence of highly repetitive sequences within the human Y chromosome has prevented its complete assembly to date1 and led to its systematic omission from genomic analyses. Here we present de novo assemblies of 43 Y chromosomes spanning 182,900 years of human evolution and report considerable diversity in size and structure. Half of the male-specific euchromatic region is subject to large inversions with a greater than twofold higher recurrence rate compared with all other chromosomes2. Ampliconic sequences associated with these inversions show differing mutation rates that are sequence context dependent, and some ampliconic genes exhibit evidence for concerted evolution with the acquisition and purging of lineage-specific pseudogenes. The largest heterochromatic region in the human genome, Yq12, is composed of alternating repeat arrays that show extensive variation in the number, size and distribution, but retain a 1:1 copy-number ratio. Finally, our data suggest that the boundary between the recombining pseudoautosomal region 1 and the non-recombining portions of the X and Y chromosomes lies 500 kb away from the currently established1 boundary. The availability of fully sequence-resolved Y chromosomes from multiple individuals provides a unique opportunity for identifying new associations of traits with specific Y-chromosomal variants and garnering insights into the evolution and function of complex regions of the human genome