eQTL

Expressionquantitative trait locus (eQTL) is a genetic variation using gene expression as a quantitative trait to study the correlation between gene mutations and gene expression. It can reveal the regulatory mechanisms by which specific gene expression is involved in disease progression, helping scientists better understand the function of genetic variation.

Cis-eQTL mainly refers to the eQTL that is relatively close to the regulated gene, generally located in the 1Mb region upstream and downstream of the regulated gene;

Trans-eQTL: contrary to cis-eQTL, trans refers to the eQTL that is far away from the regulated gene, sometimes even more than 5Mb.

Genome Wide Association Studies (GWAS) refers to the conduction of multi-center, large-sample, and repeatedly validated gene-disease association studies at the genome-wide level, such as SNP or CNV, so as to find research methods for genetic factors related to complex diseases and comprehensively reveal the genetic genes related to the occurrence, development and treatment of diseases.

High-throughput sequencing also known as Next-generation sequencing technology or Massively parallel sequencing (MPS) , which is different from traditional Sanger (dideoxy) sequencing and can perform parallel sequencing of a large number of nucleic acid molecules at a time. Usually, a sequencing reaction can produce sequencing data of no less than 100Mb.

Any type of genetic recombination involving exchange of DNA between non-homologous chromosomes, which often occurs as the result of non-homologous end-joining of broken DNA strands. Chromosomal translocation is involved in repairing broken DNA and in maintaining cell viability at the expense of long term genomic stability. This process is is associated with particular types of leukemia, infertility and Down Syndrome.