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Copy number variation in tRNA isodecoder genes impairs mammalian development and balanced translation

The number of tRNA isodecoders has increased dramatically in mammals, but the specific molecular and physiological reasons for this expansion remain elusive. To address this fundamental question we used CRISPR editing to knockout the seven-membered phenylalanine tRNA gene family in mice, both individually and combinatorially.

Multi-omic profiling reveals an RNA processing rheostat that predisposes to prostate cancer

Prostate cancer is the most commonly diagnosed malignancy and the third leading cause of cancer deaths. GWAS have identified variants associated with prostate cancer susceptibility; however, mechanistic and functional validation of these mutations is lacking.

“Connection, community and convenience”: A case study of a Facebook group for fathers navigating parenthood

Fathers remain less likely to participate in parenting interventions which can limit their ability to receive support and build their parenting capacity. The advent of social media has engendered novel opportunities for fathers to connect with, and support, one another in the form of online peer support. Growth of these online communities exemplifies the demand from fathers to relate to other fathers who are navigating parenthood. However, the benefits of membership to these communities remain unclear.

Bivalent Prefusion F Vaccine in Pregnancy to Prevent RSV Illness in Infants

Whether vaccination during pregnancy could reduce the burden of respiratory syncytial virus (RSV)-associated lower respiratory tract illness in newborns and infants is uncertain.

Gene filtering strategies for machine learning guided biomarker discovery using neonatal sepsis RNA-seq data

Machine learning (ML) algorithms are powerful tools that are increasingly being used for sepsis biomarker discovery in RNA-Seq data. RNA-Seq datasets contain multiple sources and types of noise (operator, technical and non-systematic) that may bias ML classification. Normalisation and independent gene filtering approaches described in RNA-Seq workflows account for some of this variability and are typically only targeted at differential expression analysis rather than ML applications.

Gene dysregulation in acute HIV-1 infection – early transcriptomic analysis reveals the crucial biological functions affected

Transcriptomic analyses from early human immunodeficiency virus (HIV) infection have the potential to reveal how HIV causes widespread and lasting damage to biological functions, especially in the immune system. Previous studies have been limited by difficulties in obtaining early specimens.

The use of patient-report measures and intervention strategies for children and adolescents with chronic tinnitus: a scoping review

Chronic tinnitus during childhood/adolescence can be associated with impaired quality of life. Guidelines for managing paediatric tinnitus recommend assessment and interventions are often based upon the experiences and opinions of guideline committee members.

Use of Neuroimaging to Predict Adverse Developmental Outcomes in High-Risk Infants

With advances in perinatal care, we have achieved major reductions in mortality in premature and critically ill infants, but they still remain at increased risk of neurodevelopmental disability. In this context, recent advances in neuroimaging are perceived as an addition of significant value to current clinical developmental screening programs.

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.

Examining the relationship between maternal mental health-related hospital admissions and childhood developmental vulnerability at school entry in Canada and Australia

It is well established that maternal mental illness is associated with an increased risk of poor development for children. However, inconsistencies in findings regarding the nature of the difficulties children experience may be explained by methodological or geographical differences.