Entering edit mode
7.3 years ago
sacha
★
2.4k
I m just reading the famous paper Correction of a pathogenic gene mutation in human embryos published recently. I m trying to localize the deletion corrected on IGV or other genom browser. In the paper, they said :
by a heterozygous dominant 4-bp GAGT deletion (g.9836_9839 del.,NC_000011.10)
in exon 16 of MYBPC3
- So, I didn't find any 4-bp GAGT in Omim or clinvar . But I may be wrong..
- I don't understand the location. the prefix "g" should tell me it's a genomics coordination. But with those numbers it's not possible..
- What the purpose of NC_000011.10 ? It's a NCBI Id of chromosom 11....
If you find the location, please explain how you proceed. Thanks