Krupa Natrajan

2 Questions 5 Answers 0 Followers

Questions related from Krupa Natrajan

While scoring my variants using CADD, few of my missense variants are not scored although my inputs were right. Is there any particular reason for it?

I understand CADD doesnt score nonsense, frameshift or splice. But even my missense variants are not scored.

07 July 2017 7,310 5 View

Can anyone help to analyze the copy number variation of the gene?

It's about an X-linked recessive disorder where there are two affected male siblings and one unaffected female sibling in the family. Upon gene screening by PCR amplification, the whole gene...

06 June 2014 1,557 6 View