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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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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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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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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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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal AustraliansTraits associated with CVD, CRD and T2D in Aboriginal Australians provide novel insight into function of Arylsulphatase A Pseudodeficiency variants
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Innovation in Informatics to Improve Clinical Care and Drug Accessibility for Rare Diseases in ChinaIn China, there are severe unmet medical needs of people living with rare diseases. Relatedly, there is a dearth of data to inform rare diseases policy. This is historically partially due to the lack of informatics infrastructure, including standards and terminology, data sharing mechanisms and network; and concerns over patient privacy protection.
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Reference exome data for Australian Aboriginal populations to support health-based researchOur data set provides a useful reference point for genomic studies on Aboriginal Australians
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On-the-fly selection of cell-specific enhancers, genes, miRNAs and proteins across the human body using SlideBaseSlideBase, a web tool which offers a new way of selecting genes, promoters, enhancers and microRNAs that are preferentially expressed/used in a specified set of cells/tissues
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Association of gestational age and growth measures at birth with infection-related admissions to hospital throughout childhoodChildren who were born with reduced gestational age, birthweight, and birth length have persistently increased rates of infection-related admissions to hospital until age 18 years
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Transcriptional dynamics reveal critical roles for non-coding RNAs in the immediate-early responseThe immediate-early response mediates cell fate in response to a variety of extracellular stimuli and is dysregulated in many cancers.