Introduction

Currently available next-generation sequencing (NGS) technologies are powerful enough to sufficiently provide high-resolution analysis of the entire human genome. The popularly applied strategies include:

• Exome sequencing
• Whole genome sequencing (WGS)
• Transcriptome sequencing (RNA-Seq)

NGS has shown great promise in the study of genetic variants of human disease, especially for those related to cancer. These genetic variants include:

• Single nucleotide variants (SNVs)
• Small insertions and deletions (indels)
• Copy number variations
• Large structural variants

At present, many disease genomes based on NGS have been published. Here, we listed these NGS publications with the purpose of facilitating further understanding of the genomic characteristics found in trait/disease-associated SNVs, indels, structural variants and copy number variations.

Quick search guide

• Choose any from Disease/Traits, Sequencing technology, Platform, Mutation type, Journal and Date of journal published (begining date and end date).


• Provide Gene names (e.g., MYD88), Software names (e.g., BWA), and Author name (i.e last name of the first author, like Puente). If no key words are provided, all data will be returned.


• (Optional) Either one or many options can be selected or written in the text box in order to refine your area of search.


• Click the Search button. Papers matching the search criteria will be returned.


• You can get more detailed information like the sample information, information about the tools used (mapping and variant calling tools), PubMed link to the paper and NCBI gene link to the genes etc., by clicking on the particular paper title in the results table.