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Disease >> 1000 Mendelian Disorders Project

Mendelian disorder refers to a disease caused by single-gene mutation. The mutation can either occur on a single chromosome or a pair of homologous chromosomes. At present, about 5000 Mendelian disorders have been found in human. Generally, there are five modes of inheritance for Mendelian disorders. For the past several decades, genes underlying Mendelian disorders have been identified through positional cloning, physical mapping and candidate-gene sequencing. Compared with the traditional linkage analysis, which depend on the big and good pedigree selection, next-generation sequencing is more advanced with the ability to discover novel causative genes for Mendelian disorders, by choosing a small pedigree and a few samples of patients for sequencing and analysis (Table 1). There have been thirteen papers and more published in top magazines since last year. It illustrated that next-generation sequencing is an extremely efficient and cost-effective approach for identification of a rare variant compared with many proposed methods.

1000 Mendelian Disorders Research project

◎ Initiated on May 5,2010,at a conference by BGI and the Sichuan Academy of medical Sciences.
◎ Exon sequencing and whole genome sequencing on thousands of mendelian disorders in the world.
◎ Finding out the disease-causing genes of mendelian disorders for clinical application.
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