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Article
The PPR domain of mitochondrial RNA polymerase is an exoribonuclease required for mtDNA replication in Drosophila melanogaster
Mitochondrial DNA (mtDNA) replication and transcription are of paramount importance to cellular energy metabolism. Mitochondrial RNA polymerase is thought to be the primase for mtDNA replication. However, it i...
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Article
Amygdala and anterior cingulate transcriptomes from individuals with bipolar disorder reveal downregulated neuroimmune and synaptic pathways
Recent genetic studies have identified variants associated with bipolar disorder (BD), but it remains unclear how brain gene expression is altered in BD and how genetic risk for BD may contribute to these alte...
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Article
Open AccessAssessing reproducibility of inherited variants detected with short-read whole genome sequencing
Reproducible detection of inherited variants with whole genome sequencing (WGS) is vital for the implementation of precision medicine and is a complicated process in which each step affects variant call qualit...
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Article
Correction: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder
A Correction to this paper has been published: https://doi.org/10.1038/s41380-021-01063-8
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Article
Evaluating the analytical validity of circulating tumor DNA sequencing assays for precision oncology
Circulating tumor DNA (ctDNA) sequencing is being rapidly adopted in precision oncology, but the accuracy, sensitivity and reproducibility of ctDNA assays is poorly understood. Here we report the findings of a...
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Article
Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing
Clinical applications of precision oncology require accurate tests that can distinguish true cancer-specific mutations from errors introduced at each step of next-generation sequencing (NGS). To date, no bulk ...
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Article
Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing
The lack of samples for generating standardized DNA datasets for setting up a sequencing pipeline or benchmarking the performance of different algorithms limits the implementation and uptake of cancer genomics...
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Article
Open AccessInvestigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder
Bipolar disorder (BD) is a serious mental illness with substantial common variant heritability. However, the role of rare coding variation in BD is not well established. We examined the protein-coding (exonic)...
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Article
De novo variation in bipolar disorder
Bipolar disorder (BD) is a common, highly heritable disorder that affects 1–2% of the world’s population. To date, most genetic studies of BD have focused on common gene variation, and while robustly associate...
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Article
Open AccessA verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency
Oncopanel genomic testing, which identifies important somatic variants, is increasingly common in medical practice and especially in clinical trials. Currently, there is a paucity of reliable genomic reference...
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Article
Open AccessCross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions
Targeted sequencing using oncopanels requires comprehensive assessments of accuracy and detection sensitivity to ensure analytical validity. By employing reference materials characterized by the U.S. Food and ...
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Article
Fasting-induced FOXO4 blunts human CD4+ T helper cell responsiveness
Intermittent fasting blunts inflammation in asthma1 and rheumatoid arthritis2, suggesting that fasting may be exploited as an immune-modulatory intervention. However, the mechanisms underpinning the anti-inflamma...
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Protocol
Bioinformatics Approaches for Functional Prediction of Long Noncoding RNAs
There is accumulating evidence that long noncoding RNAs (lncRNAs) play crucial roles in biological processes and diseases. In recent years, computational models have been widely used to predict potential lncRN...
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Article
Open AccessOlfactomedin 4 mediation of prostate stem/progenitor-like cell proliferation and differentiation via MYC
Olfactomedin 4 (OLFM4) is expressed in normal prostate epithelial cells and immortalized normal human prostate epithelial cells (RWPE1), but the identity of OLFM4-expressing cells within these populations and OLF...
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Article
Open AccesslncRNAKB, a knowledgebase of tissue-specific functional annotation and trait association of long noncoding RNA
Long non-coding RNA Knowledgebase (lncRNAKB) is an integrated resource for exploring lncRNA biology in the context of tissue-specificity and disease association. A systematic integration of annotations from si...
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Article
Open AccessWhole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families
Bipolar disorder (BD) is a highly heritable neuropsychiatric disease characterized by recurrent episodes of depression and mania. Research suggests that the cumulative impact of common alleles explains 25–38% ...
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Article
Open AccessIn vivo functional analysis of non-conserved human lncRNAs associated with cardiometabolic traits
Unlike protein-coding genes, the majority of human long non-coding RNAs (lncRNAs) are considered non-conserved. Although lncRNAs have been shown to function in diverse pathophysiological processes in mice, it ...
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Article
Human retinoic acid–regulated CD161+ regulatory T cells support wound repair in intestinal mucosa
Repair of tissue damaged during inflammatory processes is key to the return of local homeostasis and restoration of epithelial integrity. Here we describe CD161+ regulatory T (Treg) cells as a distinct, highly su...
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Article
Open AccessComplement receptor CD46 co-stimulates optimal human CD8+ T cell effector function via fatty acid metabolism
The induction of human CD4+ Th1 cells requires autocrine stimulation of the complement receptor CD46 in direct crosstalk with a CD4+ T cell-intrinsic NLRP3 inflammasome. However, it is unclear whether human cytot...
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Article
Open AccessReconstructing Druze population history
The Druze are an aggregate of communities in the Levant and Near East living almost exclusively in the mountains of Syria, Lebanon and Israel whose ~1000 year old religion formally opposes mixed marriages and ...
