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Haberman, Y.

Publications and source records attributed to Haberman, Y..

2 recordsLinked to original sources

Achieving pan-microbiome biological insights via the dbBact knowledge base

16S rRNA amplicon sequencing provides a relatively inexpensive culture-independent method for studying the microbial world. Although thousands of such studies have examined diverse habitats, it is difficult for researchers to use this vast trove of experiments when analyzing their findings and interpret them in a broader context. To bridge this gap, we introduce dbBact, an open wiki-like bacterial knowledge base. dbBact combines information from hundreds of studies across diverse habitats, creating a collaborative central repository where 16S rRNA amplicon sequence variants (ASVs) are manually extracted from each study and assigned multiple ontology-based terms. Using the >900 studies of dbBact, covering more than 1,400,000 associations between 345,000 ASVs and 6,500 ontology terms, we show how the dbBact statistical and programmatic pipeline can augment standard microbiome analysis. We use multiple examples to demonstrate how dbBact leads to formulating novel hypotheses regarding inter-host similarities, intra-host sources of bacteria, and commonalities across different diseases, and helps detect environmental sources and identify contaminants.

microbiology↗

Stratification of Risk of Progression to Colectomy in Ulcerative Colitis using Measured and Predicted Gene Expression

An important goal of clinical genomics is to be able to estimate the risk of adverse disease outcomes. Between 5% and 10% of ulcerative colitis (UC) patients require colectomy within five years of diagnosis, but polygenic risk scores (PRS) utilizing findings from GWAS are unable to provide meaningful prediction of this adverse status. By contrast, in Crohns disease, gene expression profiling of GWAS-significant genes does provide some stratification of risk of progression to complicated disease in the form of a Transcriptional Risk Score (TRS). Here we demonstrate that both measured (TRS) and polygenic predicted gene expression (PPTRS) identify UC patients at 5-fold elevated risk of colectomy with data from the PROTECT clinical trial and UK Biobank population cohort studies, independently replicated in an NIDDK-IBDGC dataset. Prediction of gene expression from relatively small transcriptome datasets can thus be used in conjunction with transcriptome-wide association studies to stratify risk of disease complications.

genetics↗