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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...

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BDdb: a comprehensive platform for exploration and utilization of birth defect multi-omics data.

Dengwei Zhang^1,2,3,4, Si Zhou^1,5, Ziheng Zhou²

¹College of Life Sciences, University of Chinese Academy of Sciences, Beijing, 100049, People's Republic of China.

BMC Medical Genomics

|November 5, 2021

Summary

A new birth defect multi-omics database (BDdb) integrates diverse omics data and biomarkers for 22 conditions. This resource aids in understanding birth defect mechanisms and developing diagnostic and preventative strategies.

Keywords:

Biomarker Birth defects Chromosomal abnormality Omics

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

Developmental Biology
Genomics
Bioinformatics

Background:

Birth defects represent a significant global health concern, with underlying causes often remaining unknown.
Extensive research has been conducted to elucidate the mechanisms of birth defects, generating substantial data.
There is a growing need for centralized, accessible data resources to advance birth defect research.

Purpose of the Study:

To develop a comprehensive, freely accessible multi-omics database for birth defects.
To integrate diverse omics datasets and potential disease biomarkers.
To facilitate research into the causes and mechanisms of birth defects.

Main Methods:

Integrated omics datasets from 136 Gene Expression Omnibus (GEO) Series records (5245 samples).
Included 869 biomarkers associated with 22 distinct birth defects across six species.
Developed a user-friendly interface for data searching, browsing, and downloading.

Main Results:

The Birth Defect multi-omics database (BDdb) consolidates extensive omics data and biomarkers.
BDdb provides a platform for exploring correlations between different sequencing methods (e.g., ChIP-Seq, RNA-Seq).
Users can access gene expression patterns from various studies through the database.

Conclusions:

BDdb is the first comprehensive database specifically for birth defects.
This resource is expected to significantly aid in the diagnosis and prevention of birth defects.
BDdb promotes further investigation into the genetic and molecular underpinnings of congenital anomalies.