Analysing segregation data
In this step, and the exercise step which follows, we are going to focus on analysing segregation data in more detail. These steps will be helpful for learners who may …
Course: Interpreting Genomic Variation: Fundamental Principles
VUS MDT Meetings Part 2: Good communication
In this video, our clinicians and scientists have another go at discussing Grace’s NSD1 c.5685C>G p.(Cys1895Trp) variant. Here we see a better outcome to the discussion, with a proforma summarising …
ACMG & ACGS guidelines Part 6: De novo, allelic and segregation data
In this step, we will consider how data from family studies are used in the ACMG guidelines1 and ACGS update.2 This encompasses three evidence categories: De novo data Allelic data …
ACMG & ACGS guidelines Part 5: Functional data
In this step, we will consider the functional data category. We discussed functional data analysis in detail early on in Week 2. Take some time to look at the figure …
These articles are from the online course:
Interpreting Genomic Variation: Fundamental Principles