By
comparing the whole genome sequence of the lab - cultured resistant strain with a sibling strain that had not been exposed to the drug, they were able to identify several mutations of interest in a number of genes.
Not exact matches
The team integrated three, complementary gene
sequencing approaches to look for mutations in tumor cells from SS patients:
whole -
genome sequencing in six subjects,
sequencing of all protein - coding regions (exomes) in 66 subjects, and
comparing variation in the number of copies of all genes across the
genome in 80 subjects.
To grasp the implications, Stefánsson's team
compared the
whole -
genome sequences of 78 Icelandic people diagnosed with autism or schizophrenia with the
sequences of their fathers and mothers.
Using
whole -
genome sequencing, they looked at rare genetic variants in modern - day British populations and
compared them with variants in the DNA of 10 ancient skeletons.
The team used
whole genome sequencing techniques to
compare the genetic information from the TB bacteria of each patient.
Chowdhury and his colleagues found that for all six infants, who suffered from a variety of often exceedingly rare genetic disorders,
sequencing their
whole genomes led to a reduction in the length of stay in the NICU by 124 days
compared to control cases and reports from the scientific literature, in which standard array or panel - based genetic testing may be used.
A cohort like the one in the AMD study (44,000 samples) probably costs $ 2.2 million to genotype,
compared to
sequencing costs of $ 9.7 million (exome) to $ 45 million (
whole genome).
Compared to
whole -
genome sequencing, the authors claim a 20-fold reduction in the amount of
sequence required.
A number of earlier studies have
compared a subset of those
sequencing platforms or
compared those platforms with Sanger
sequencing, which is prohibitively expensive for
whole genome studies.
These studies, however, were based on
comparing Life Technologies» SOLiD and Illumina's GAII with pyrosequencing or Sanger
sequencing [8], [9], [10], the costs of which are prohibitive for
whole -
genome sequencing studies in mammals.