Confirmation of paternity and maternity

Clinical-Genomics / scout

VCF visualization interface

https://clinical-genomics.github.io/scout

BSD 3-Clause "New" or "Revised" License

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Confirmation of paternity and maternity #508

Closed 29vd closed 7 years ago

29vd commented 7 years ago

We have previously discussed that we would apprechiate that maternity and paternity could be confirmed for TRIO analyses. Can this be visualized somewhere in Scout? If the MPS can confirm that the analysed individuals are the mother and father of the proband, the detected sequencevariants can get a higher pathogenic score...(ACMG)

dnil commented 7 years ago

Peddy? http://www.cell.com/ajhg/fulltext/S0002-9297(17)30017-4

29vd commented 7 years ago

Går det att implementera i Scout vore det ju utmärkt- eller vad tror du?

dnil commented 7 years ago

Jepp - på gång också, delvis av andra anledningar. Dessutom produceras faktiskt ett par tre rätt hyggliga mått för varje prov nu, men det syns inte riktigt i Scout. Blir toppenbra!

// Daniel

moonso commented 7 years ago

We are working on including peddy in the analysis and then display relevant results

moonso commented 7 years ago

We will display the peddy information on the case page. That is confirmed sex, confirmed parent and predicted ancestry🕺🤦‍♂️🤦🏻‍♂️🤦🏽‍♂️🤦🏿‍♂️