Abstract

BackgroundBirth defects pose a major challenge to infant health. Thus far, however, the causes of most birth defects remain cryptic. Over the past few decades, considerable effort has been expended on disclosing the underlying mechanisms related to birth defects, yielding myriad treatises and data. To meet the increasing requirements for data resources, we developed a freely accessible birth defect multi-omics database (BDdb, http://t21omics.cngb.org) consisting of multi-omics data and potential disease biomarkers.ResultsIn total, omics datasets from 136 Gene Expression Omnibus (GEO) Series records, including 5245 samples, as well as 869 biomarkers of 22 birth defects in six different species, were integrated into the BDdb. The database provides a user-friendly interface for searching, browsing, and downloading data of interest. The BDdb also enables users to explore the correlations among different sequencing methods, such as chromatin immunoprecipitation sequencing (ChIP-Seq) and RNA sequencing (RNA-Seq) from different studies, to obtain the information on gene expression patterns from diverse aspects.ConclusionTo the best of our knowledge, the BDdb is the first comprehensive database associated with birth defects, which should benefit the diagnosis and prevention of birth defects.

Highlights

  • Birth defects pose a major challenge to infant health

  • We developed a freely accessible birth defect multi-omics database (BDdb, http://t21omics.cngb.org)

  • IFI27 is involved in the interferon response in trisomy 21 [39]. We found that both TTC3 and IFI27 had higher expression levels in trisomy 21 than in euploid controls in GSE55504

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Summary

Introduction

Birth defects pose a major challenge to infant health. The causes of most birth defects remain cryptic. More than 8.14 million children are born with severe birth defects each year, which are among the principal causes of infant mortality [2]. The impacts of birth defects on human society are widespread, affecting survival. Chromosomal abnormalities are one of the main causes of birth defects with a known etiology [3], with nearly one in 200 newborns affected [6]. Down syndrome is the most common disease, with an occurrence of 1/319 to 1/1 000 in different populations [3, 7]

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