Changes between Version 2 and Version 3 of Courses/ComputationalMolecularBiologyResearch2015/P1

Timestamp:

2015-01-31T15:21:14+01:00 (10 years ago)

Author:

Pieter Neerincx

Comment:

--

Courses/ComputationalMolecularBiologyResearch2015/P1

@@ -16 +16 @@
 * The genetic variant was sequenced, but is not yet called by our bioinformatics pipeline.
 * The genetic variant was sequenced and called, but we cannot interpret the effect of the variant correctly.
-The largest amount of genetic variants currently missed are either Copy Number Variants (CNVs) and medium sized InDels: larger than the NGS read length, but shorter than what can be detected with classic diagnostics like array CGH (aCGH). An additional complication for the current short InDel calls is that only the variant is detected, but not the genotype (heterozygous vs. homozygous). Large insertions are expected less frequently, but not less important. Calls for this type of variants need to be included in the analysis too. Finally the calls (of any type) are not yet optimized for non-autosomal chormosomes like the sex chromosomes and the mitochondrial chromosome.
+The largest amount of genetic variants currently missed are either Copy Number Variants (CNVs) and medium sized !InDels: larger than the NGS read length, but shorter than what can be detected with classic diagnostics like array CGH (aCGH). An additional complication for the current short !InDel calls is that only the variant is detected, but not the genotype (heterozygous vs. homozygous). Large insertions are expected less frequently, but not less important. Calls for this type of variants need to be included in the analysis too. Finally the calls (of any type) are not yet optimized for non-autosomal chormosomes like the sex chromosomes and the mitochondrial chromosome.