Editorial: Marching Toward 100% Whole Genome Sequencing.

Yih-Horng Shiao

doi:10.3389/fgene.2016.00041

Abstract

Editorial: Marching Toward 100% Whole Genome Sequencing.

Highlights

Ontogeny-driven rearrangement, methylation, and transcription in mouse tandemly repeated 45S rDNA suggests that dynamic genome restructuring plays a key role in embryonic development and tissue differentiation in mammals (Shiao et al, 2011)
In this Research Topic, a collection of eight articles touches upon various aspects of whole genome sequencing, encompassing challenges to obtain 100% genome sequence coverage or reliable reference genomes, mapping and assembly of short-read sequencing data, detection of copy number variation across large genome segments, progress in longread single molecule sequencing technologies, and clinical applications of exome and genome sequencing
One major challenge is associated with sequence reads that are insufficiently long to span long repetitive sequences, which are interspersed in the genome or can be concentrated in telomere, centromere, and acrocentric regions

Summary

Introduction

In this Research Topic, a collection of eight articles touches upon various aspects of whole genome sequencing, encompassing challenges to obtain 100% genome sequence coverage or reliable reference genomes, mapping and assembly of short-read sequencing data, detection of copy number variation across large genome segments, progress in longread single molecule sequencing technologies, and clinical applications of exome and genome sequencing. One major challenge is associated with sequence reads that are insufficiently long to span long repetitive sequences, which are interspersed in the genome or can be concentrated in telomere, centromere, and acrocentric regions.

Results

Conclusion