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Antisense Transcription in Loci Associated to Hereditary Neurodegenerative DiseasesEvidence for the existence of additional regulatory mechanisms of the expression of neurodegenerative disease-causing genes by antisense long noncoding RNAs
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Functional genomics in cancer immunotherapy: Computational approaches for biomarker and drug discoveryThis review explores computational strategies to yield biological insight into the processes involved in the immunotherapeutic response
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Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoeaWe report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L
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A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next FrontiersThere is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care
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C1 CAGE detects transcription start sites and enhancer activity at single-cell resolution.We introduce C1 CAGE, a method for the detection of transcript 5'-ends with an original sample multiplexing strategy in the C1TM microfluidic system
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Conserved temporal ordering of promoter activation implicates common mechanisms governing the immediate early response across cell types and stimuliWe obtain a set of 57 candidate immediate early genes possessing promoters that consistently drive a rapid but transient increase in expression over time
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Metagenomic Characterisation of the Gut Microbiome and Effect of Complementary Feeding on Bifidobacterium spp. in Australian InfantsComplementary feeding induces dramatic ecological shifts in the infant gut microbiota toward more diverse compositions and functional metabolic capacities, with potential implications for immune and metabolic health. The aim of this study was to examine whether the age at which solid foods are introduced differentially affects the microbiota in predominantly breastfed infants compared with predominantly formula-fed infants.
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CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural inductionAn estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.
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Indigenous Australian genomes show deep structure and rich novel variationThe Indigenous peoples of Australia have a rich linguistic and cultural history. How this relates to genetic diversity remains largely unknown because of their limited engagement with genomic studies. Here we analyse the genomes of 159 individuals from four remote Indigenous communities, including people who speak a language (Tiwi) not from the most widespread family (Pama-Nyungan). This large collection of Indigenous Australian genomes was made possible by careful community engagement and consultation.
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Trends in prenatal diagnosis of congenital anomalies in Western Australia between 1980 and 2020: A population-based studyAdvances in screening and diagnostics have changed the way in which we identify and diagnose congenital anomalies.