Wed, 01/08/2014
Customer asks about data analysis for fetal DNA from maternal cell-free DNA for prenatal diagnosis purposes.
Wed, 01/08/2014 at 5:48 PM
AccuraScience LB: The tricky thing about sequencing analysis of plasma DNA for prenatal test purposes is that on average only ~12% of the cell-free DNA comes from the fetus, and this fraction varies from case to case. Depending on the objective of the test - if it is to detect large-scale structural abnormalities, e.g. Downs or other trisomy syndromes, it is fairly easy to do. If, on the other hand, you would want to detect disease-causing SNVs, it's doable, but the sensitivity will not be good or consistent due to the small and variable fraction of fetus DNA. If you would want to go one step further, and resolve phasing information of the variants (which is important to determine whether some of the variants are deleterious or not), it would be extremely difficult - some argue that this is not even possible.
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Note: LB stands for Lead Bioinformatician. An AccuraScience LB is a senior bioinformatics expert and leader of an AccuraScience data analysis team.
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