Application of Modular Rating Knowledge Assessment as an Innovative Learning Method

Оценка качества знаний специалистов среднего профессионального образования выступает одним из актуальных вопросов повышения качества образования. Методы оценки, релевантные уровню сформированности компетенций, представляют дисскусионный вопрос среди отечественных исследователей.Assessment of the quality of knowledge of specialists in secondary vocational education is one of the topical issues of improving the quality of education. Assessment methods that are relevant to the level of competence formation represent a discussion issue among domestic researchers

Outcomes for 18 to 25-year-olds with borderline personality disorder in a dedicated young adult only DBT programme compared to a general adult DBT programme for all ages 18

Aim Targeting young adults with borderline personality disorder (BPD) for treatment may carry significant social and clinical benefits. We aimed to evaluate a community‐based Dialectical Behaviour Therapy (DBT) programme delivered exclusively to young adults with BPD. Methods We describe a naturally occurring non‐equivalent, quasi‐experimental comparison of outcomes for young adults (18‐25 years) with BPD following 1 year of treatment in either a young adult only DBT programme or a general adult DBT programme (18+ years). Twenty‐four young adults enrolled in a community‐based young adult DBT programme open only to 18‐ to 25‐year‐olds with BPD. Another 13 young adults, also 18‐25 years, enrolled in a general adult DBT programme open to all ages above 18 years. Both treatment conditions offered all modes of standard DBT for 1 year. Participants completed a battery of self‐report measures on mental health symptoms at baseline and again at treatment completion after 1 year. Discharge rates at 2 years post‐treatment completion were also recorded. Results Better outcomes were found on borderline symptom severity and general psychopathology among completers of young adult DBT, with a large effect size for treatment condition as well as greater clinically significant change. Discharge rates from mental health services 24 months later were also higher for completers of young adult DBT. Conclusions There may be advantages in delivering DBT to young adults in an age‐specific programme, possibly due to group cohesion. Methodological limitations apply, such as small sample size and non‐randomization. Further controlled research is needed

Nanopore sequencing and assembly of a human genome with ultra-long reads

We report the sequencing and assembly of a reference genome for the human GM12878 Utah/Ceph cell line using the MinION (Oxford Nanopore Technologies) nanopore sequencer. 91.2 Gb of sequence data, representing ~30× theoretical coverage, were produced. Reference-based alignment enabled detection of large structural variants and epigenetic modifications. De novo assembly of nanopore reads alone yielded a contiguous assembly (NG50 ~3 Mb). Next, we developed a protocol to generate ultra-long reads (N50 > 100kb, up to 882 kb). Incorporating an additional 5×-coverage of these data more than doubled the assembly contiguity (NG50 ~6.4 Mb). The final assembled genome was 2,867 million bases in size, covering 85.8% of the reference. Assembly accuracy, after incorporating complementary short-read sequencing data, exceeded 99.8%. Ultra-long reads enabled assembly and phasing of the 4 Mb major histocompatibility complex (MHC) locus in its entirety, measurement of telomere repeat length and closure of gaps in the reference human genome assembly GRCh38

Semi-automated assembly of high-quality diploid human reference genomes

The current human reference genome, GRCh38, represents over 20 years of effort to generate a high-quality assembly, which has benefitted society. However, it still has many gaps and errors, and does not represent a biological genome as it is a blend of multiple individuals. Recently, a high-quality telomere-to-telomere reference, CHM13, was generated with the latest long-read technologies, but it was derived from a hydatidiform mole cell line with a nearly homozygous genome. To address these limitations, the Human Pangenome Reference Consortium formed with the goal of creating high-quality, cost-effective, diploid genome assemblies for a pangenome reference that represents human genetic diversity. Here, in our first scientific report, we determined which combination of current genome sequencing and assembly approaches yield the most complete and accurate diploid genome assembly with minimal manual curation. Approaches that used highly accurate long reads and parent-child data with graph-based haplotype phasing during assembly outperformed those that did not. Developing a combination of the top-performing methods, we generated our first high-quality diploid reference assembly, containing only approximately four gaps per chromosome on average, with most chromosomes within ±1% of the length of CHM13. Nearly 48% of protein-coding genes have non-synonymous amino acid changes between haplotypes, and centromeric regions showed the highest diversity. Our findings serve as a foundation for assembling near-complete diploid human genomes at scale for a pangenome reference to capture global genetic variation from single nucleotides to structural rearrangements

A draft human pangenome reference

Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals. These assemblies cover more than 99% of the expected sequence in each genome and are more than 99% accurate at the structural and base pair levels. Based on alignments of the assemblies, we generate a draft pangenome that captures known variants and haplotypes and reveals new alleles at structurally complex loci. We also add 119 million base pairs of euchromatic polymorphic sequences and 1,115 gene duplications relative to the existing reference GRCh38. Roughly 90 million of the additional base pairs are derived from structural variation. Using our draft pangenome to analyse short-read data reduced small variant discovery errors by 34% and increased the number of structural variants detected per haplotype by 104% compared with GRCh38-based workflows, which enabled the typing of the vast majority of structural variant alleles per sample