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Zimin, A.

Publications and source records attributed to Zimin, A..

3 recordsLinked to original sources

New de novo assembly of the Atlantic bottlenose dolphin (Tursiops truncatus) improves genome completeness and provides haplotype phasing.

High quality genomes are essential to resolve challenges in breeding, comparative biology, medicine and conservation planning. New library preparation techniques along with better assembly algorithms result in continued improvements in assemblies for non-model organisms, moving them toward reference quality genomes. We report on the latest genome assembly of the Atlantic bottlenose dolphin leveraging Illumina sequencing data coupled with a combination of several library preparation techniques. These include Linked-Reads (Chromium, 10x Genomics), mate pairs, long insert paired ends and standard paired ends. Data were assembled with the commercial DeNovoMAGICTM assembly software resulting in two assemblies, a traditional \"haploid\" assembly (Tur_tru_Illumina_hap_v1) that is a mosaic of the two parental haplotypes and a phased assembly (Tur_tru_Illumina_phased_v1) where each scaffold has sequence from a single homologous chromosome. We show that Tur_tru_Illumina_hap_v1 is more complete and accurate compared to the current best reference based on the amount and composition of sequence, the consistency of the mate pair alignments to the assembled scaffolds, and on the analysis of conserved single-copy mammalian orthologs. The phased de novo assembly Tur_tru_Illumina_phased_v1 is the first publicly available for this species and provides the community with novel and accurate ways to explore the heterozygous nature of the dolphin genome.

genomics

A Russian validation study of the Coma Recovery Scale-Revised (CRS-R)

Introduction: The aim of the present study was to validate a Russian adaptation of the Coma Recovery Scale-Revised (CRS-R).\n\nSubjects and methods: We evaluated 58 patients diagnosed with chronic disorders of consciousness (>4 weeks post-injury, DOC) of various etiology and two patients in a locked-in state at different time points in their post-comatose recovery. We tested sensitivity for changes over 1 week, reliability, as well as criterion validity and diagnostic sensitivity of the Russian adaptation of the CRS-R in comparison with the Russian adaptations of Full Outline of UnResponsiveness Score (FOUR), and Glasgow Coma Scale (GCS).\n\nResults: We obtained good sensitivity for changes in neurological status over one week (p<0.0001) and good test-retest reliability (r=1, p<0.0001) of the CRS-R. Inter-rater reliability for the CRS-R total score ({kappa}=0.99, p<0.001) and subscale scores was good. We showed high internal consistency (=0.87 and 0.89 for the first and second visit respectively). We also showed good criterion validity between two other standardized behavioral scales (moderate correlation with GCS, r=0.597 and high correlation with FOUR Score, r=0.900). CRS-R also demonstrated a significantly higher sensitivity in differential diagnosis of DOC, as compared to GCS, and FOUR Score (p<0.001).\n\nConclusion: The results show that the Russian version of the CRS-R is a valid and sensitive tool for the evaluation of severely brain damaged patients with chronic DOC which can be used for differential diagnosis and for the assessment of dynamic recovery.

neuroscience

First Draft Genome Sequence of the Pathogenic Fungus Lomentospora prolificans (formerly Scedosporium prolificans)

Here we describe the sequencing and assembly of the pathogenic fungus Lomentospora prolificans using a combination of short, highly accurate Illumina reads and additional coverage in very long Oxford Nanopore reads. The resulting assembly is highly contiguous, containing a total of 37,630,066 bp with over 98% of the sequence in just 26 scaffolds. Annotation identified 8,656 protein-coding genes. Pulsed-field gel analysis suggests that this organism contains at least 7 and possibly 11 chromosomes, the two longest of which have sizes corresponding closely to the sizes of the longest scaffolds, at 6.6 and 5.7 Mb.

microbiology