Abstract

We witness the tremendous advances in sequencing technologies and dramatic reduction of the sequencing costs. Fast and cheaper Next Generation Sequencing (NGS) technologies will generate unprecedentedly massive (millions of individuals) and highlydimensional (dozens or even hundreds of millions) genomic and epigenomic variation data that allow nearly complete evaluation of genomic and epigenomic variation including common and rare variants, insertion/deletion, CNVs, mRNA by sequencing (RNA-seq), microRNA by sequencing (mRNA-seq), methylation by sequencing (methylationseq) and Chip-seq [1]. This will provide not only invaluable information on fully understanding the role of human genomic and epigenomic variation and its role in complex clinical phenotypes and evolution, but also powerful tools for clinical genomics: diagnosis of disease, classification of disease subtypes, prediction of clinical outcomes, characterization of disease progression, management of health care and development of treatments, and morphological evolution.

Highlights

  • We witness the tremendous advances in sequencing technologies and dramatic reduction of the sequencing costs

  • We are entering a new era for clinical genomics

  • Analytical and computational challenges raised by Next Generation Sequencing (NGS) and new sensing technologies, several essential issues to the success of clinical genomics should be addressed

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Summary

Introduction

We witness the tremendous advances in sequencing technologies and dramatic reduction of the sequencing costs. This will provide invaluable information on fully understanding the role of human genomic and epigenomic variation and its role in complex clinical phenotypes and evolution, and powerful tools for clinical genomics: diagnosis of disease, classification of disease subtypes, prediction of clinical outcomes, characterization of disease progression, management of health care and development of treatments, and morphological evolution.

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