Disease Genomics

1000 Mendelian Disorders Project

Mendelian disorders are diseases caused by mutation single-gene. The mutation can occur either on a single chromosome or both of a pair of homologous chromosomes. So far, about 5000 Mendelian disorders have been identified in humans.

Over the past several decades, the primary techniques for identifying genes correlated to Mendelian disorders have been positional cloning, physical mapping, and candidate-gene sequencing. Recently, with the development of next-generation sequencing technology, exome sequencing has been employed and has proven to be a powerful approach to identify the genetic basis of Mendelian disorders.

Powered by over 150 next-generation sequencing platforms and 500 bioinformatics professionals, BGI initiated the “1000 Mendelian Disorders Project” and seeks international collaboration to increase the number of Mendelian disorders analyzed to identify their molecular basis, and promote early prediction, diagnosis, and intervention

Mendelian Disorders Genomics

Exome sequencing
The exome constitutes about 1% of the human genome. It is the most functionally-relevant DNA sequence that is translated into proteins and contains 85% of the mutations that have large effects on disease-related traits. Exome sequencing provides an effective approach to study Mendelian disorders.

  • Captures both common and rare variations

Whole Genome Sequencing
Comparison of genome sequences at the individual or population level, enables genomic variation analysis. Whole-genome sequencing has been carried out in many large-scale comparative studies and were performed in an effort to understand how genetic differences affect health and disease.

  • Complementary with exome sequencing results
  • Identifies causative genes that are not located in the exome

Complex Diseases Genomics
The tremendous advances development in next generation sequencing technologies has brought a new era for complex diseases genomics research. The NGS platform in combination with bioinformatics allow genome-wide identification of a full range of somatic mutations, including point mutations, indels, copy number variations and genomic rearrangements at genome scale. This sequencing approach can also be applied to the characterization of affected-cell transcriptomes and epigenomes.


  • Unbiased discovery of disease-specific somatic mutations (SNP, indel, SV, CNV, etc)
  • Unbiased discovery of disease-specific germline mutations
  • Identification of disease susceptibility genes & pathogenic genes
  • Identification of disease-associated variations related to expression level, gene fusion, alternative splicing, etc
  • Detection of differentially expressed genes in cases and controls
  • Detection of disease-related epigenetic modifications