Computational Approaches for Unraveling the Effects of Variation in the Human Genome and Microbiome

Abstract

The past two decades of analytical efforts have highlighted how much more remains to be learned about the human genome and, particularly, its complex involvement in promoting disease development and progression. While numerous computational tools exist for the assessment of the functional and pathogenic effects of genome variants, their precision is far from satisfactory, particularly for clinical use. Accumulating evidence also suggests that the human microbiome’s interaction with the human genome plays a critical role in determining health and disease states. While numerous microbial taxonomic groups and molecular functions of the human microbiome have been associated with disease, the reproducibility of these findings is lacking. The human microbiome–genome interaction in healthy individuals is even less well understood. This review summarizes the available computational methods built to analyze the effect of variation in the human genome and microbiome. We address the applicability and precision of these methods across their possible uses. We also briefly discuss the exciting, necessary, and now possible integration of the two types of data to improve the understanding of pathogenicity mechanisms.

Publication
Annual Review of Biomedical Data Science
Chengsheng Zhu
Chengsheng Zhu
PostDoctoral Associate

Hello! 你好!こんにちは!

Maximilian Miller
Maximilian Miller
PostDoctoral Associate

improving variant effect predictions, deciphering metagenomes and creating an efficient service infrastructure

Zishuo Zeng
Zishuo Zeng
PhD Student

Synonymous variants have the right to remain silent, but they choose not to.

Yanran Wang
Yanran Wang
PhD Candidate

Machine learning and sequencing data.

Yannick Mahlich
Yannick Mahlich
PostDoctoral Associate
Ariel Aptekmann
Ariel Aptekmann
PostDoctoral Associate

Understanding the language of life

Yana Bromberg
Yana Bromberg
Principal Investigator - Associate Professor of Bioinformatics

My research focuses on deciphering the DNA blueprints of life’s molecular machinery

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