search

robinandeer / scout

Frontend web UI for scouting clinical DNA variants
Other
6 stars 0 forks source link

Family 48 #153

Closed ghost closed 10 years ago

ghost commented 10 years ago

Can you explain the calling in this family for the ADSL gene? To me all the variants appear to be wild-type but are being called as heterozygous variants in the patient only. There is even an amino acid change with polyphen scores etc.

submitted by Nicole Lesko.

henrikstranneheim commented 10 years ago

This definitively looks odd. I will rerun the family using the updated GATK software and see if the call remains the same.

On 14 Apr 2014, at 14:47, The Clinician notifications@github.com wrote:

Can you explain the calling in this family for the ADSL gene? To me all the variants appear to be wild-type but are being called as heterozygous variants in the patient only. There is even an amino acid change with polyphen scores etc.

submitted by Nicole Lesko.

— Reply to this email directly or view it on GitHub.

Henrik Stranneheim Ph.D. Department of Molecular Medicine and Surgery Karolinska Institute Science for Life Laboratory, KISP SE-171 65 Solna, Sweden

E-mail: henrik.stranneheim@scilifelab.se Visiting address: Tometebodavägen 23A

henrikstranneheim commented 10 years ago

This issue is resolved with the latest updates from GATK.