全基因组外显子(组)测序wes.pptxVIP

;;;;Human genome project: 8 goals 1] Human DNA sequence 2] Develop sequencing technology 3] Identify human genome sequence variation 4] Functional genomics technology 5] Comparative genomics 6] ELSI: ethical, legal, and social issues 7] Bioinformatics and computational biology 8] Training and manpower;;; 目前所知人类基因的数目约为21,000个。这个数目远远低于以前的估计值; Exome sequencing (also known as targeted exome capture) is an efficient strategy to selectively sequence the coding regions of the genome to identify novel genes associated with rare and common disorders. Routine whole genome sequencing of lar