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An expanded phenotype centric benchmark of variant prioritisation tools

Identifying the causal variant for diagnosis of genetic diseases is challenging when using next-generation sequencing approaches and variant prioritization tools can assist in this task. These tools provide in silico predictions of variant pathogenicity, however they are agnostic to the disease under study. We previously performed a disease-specific benchmark of 24 such tools to assess how they perform in different disease contexts.

SAMStat 2: quality control for next generation sequencing data

SAMStat is an efficient program to extract quality control metrics from fastq and SAM/BAM files. A distinguishing feature is that it displays sequence composition, base quality composition and mapping error profiles split by mapping quality. This allows users to rapidly identify reasons for poor mapping including the presence of untrimmed adapters or poor sequencing quality at individual read positions.

Associations between interpregnancy interval and preterm birth by previous preterm birth status in four high-income countries: a cohort study

To investigate the effect of interpregnancy interval (IPI) on preterm birth (PTB) according to whether the previous birth was preterm or term.

Electrostatic Filters to Reduce COVID-19 Spread in Bubble CPAP: An in vitro Study of Safety and Efficacy

Bubble CPAP may be used in infants with suspected or confirmed COVID-19. Electrostatic filters may reduce cross infection. This study aims to determine if including a filter in the bubble CPAP circuit impacts stability of pressure delivery. A new electrostatic filter was placed before (pre) or after (post) the bubble CPAP generator, or with no filter (control) in an in vitro study. Pressure was recorded at the nasal interface for 18 h (6 L/min; 7 cm H2O) on 3 occasions for each configuration. Filter failure was defined as pressure >9 cm H2O for 60 continuous minutes. The filter was weighed before and after each experiment.

Systematic assessment of tissue dissociation and storage biases in single-cell and single-nucleus RNA-seq workflows

Systematic comparison of recovered cell types and their transcriptional profiles across the workflows has highlighted protocol-specific biase

Bilateral murine tumor models for characterizing the response to immune checkpoint blockade

This protocol describes bilateral murine tumor models that display a symmetrical yet dichotomous response to immune checkpoint blockade

Reference exome data for Australian Aboriginal populations to support health-based research

Our data set provides a useful reference point for genomic studies on Aboriginal Australians

Expression Levels of Therapeutic Targets as Indicators of Sensitivity to Targeted Therapeutics

We investigated the relationship between the sensitivity of hundreds of cell lines to hundreds of drugs, and the relative expression levels of the targets

Identification of novel cerebellar developmental transcriptional regulators with motif activity analysis

The FANTOM5 cerebellum time series is a high-quality transcriptome database for functional investigation of gene regulatory networks in cerebellar development

The role and therapeutic implications of T cells in cancer of the lung

This review examines the role of T cells in lung cancer, discussing the direction and clinical significance of current and future immunotherapeutic strategies