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A Comparison Study of Whole Genome Sequencing (WGS) in Clinical Setting
A Comparison Study of Whole Genome Sequencing (WGS) in Clinical Setting
Setting
Background
The study
There have been few previous comparisons of WGS and WES for the
detection rate of genetic diseases. After screening, a total of 108 patients
were enrolled in the WGS analysis. Their gene chip and WES test both
showed negative results and their clinical data and previous sequencing raw
data were preserved intact. After WGS test, the results showed that 10 cases
(9%) of positive results, 5 cases were uncertain, and 93 cases were negative.
The authors analyzed the reasons for the positive results of 10 cases of WGS,
including three aspects:
(1) The academic background of WES and WGS: Although WES also
detected mutation site on the 1st, 2cd, and 3rd case, it was not reported as
the pathogenic site, mainly because at the time of detection, the correlation
between pathogenic gene and clinical phenotype has not been determined
yet;
(2) The influence of structural variation and non-coding region variation: such
as the 4th, 5th, and 6th case;
(3) Impact of sequencing platform: The 7th, 8th, 9th and 10th case belongs to
this situation. The mutation sites were detected by WES on the Illumina
platform.
For WGS price, the market completion is fierce and good for reducing cost.
So, I think it is very likely that WGS will become mainstream in the near
future.
However, what is the best practice for WGS, is still a question for colleagues
and experts to work together to study and explore.