Genome Sequencing: Tip of The Iceberg
Spectacular I.
The scientists sequenced all the DNA from both tumor tissue and normal tissue from a melanoma patient and a lung cancer patient using a technology called massively parallel sequencing. By comparing the cancer sequences with the healthy ones, they were able to pick up all the changes specific to cancer.
The lung tumor carried more than 23,000 mutations and the melanoma had more than 33,000.
http://www.msnbc.msn.com/id/34...
Spectacular II.
We performed a genome-wide association study (GWAS) of systemic lupus erythematosus (SLE) in a Chinese Han population by genotyping 1,047 cases and 1,205 controls using Illumina Human610-Quad BeadChips and replicating 78 SNPs in two additional cohorts (3,152 cases and 7,050 controls). We identified nine new susceptibility loci (ETS1, IKZF1, RASGRP3, SLC15A4, TNIP1, 7q11.23, 10q11.22, 11q23.3 and 16p11.2; 1.77 times 10-25 less than or equal to Pcombined less than or equal to 2.77 times 10-8) and confirmed seven previously reported loci (BLK, IRF5, STAT4, TNFAIP3, TNFSF4, 6q21 and 22q11.21; 5.17 times 10-42 less than or equal to Pcombined less than or equal to 5.18 times 10-12). Comparison with previous GWAS findings highlighted the genetic heterogeneity of SLE susceptibility between Chinese Han and European populations. This study not only advances our understanding of the genetic basis of SLE but also highlights the value of performing GWAS in diverse ancestral populations.
http://www.nature.com/ng/journ...
Spectacular III.
A critically ill Turkish boy has had his life saved after scientists were able to read his genome quickly and work out that he had a wrong diagnosis.
http://news.bbc.co.uk/2/hi/831...
These studies are the phase I of genome sequencing. In phase I Individual genomes are being sequenced all over the world.
In Phase II, the the global sequence data will be stored in universal databases with all the associated disease and phenotype information.
In Phase III, all known genes will be linked to all observed phenotypes and disease conditions with few exceptions.
It won't take long. Watch that happen in less than 5 years.
