Luciana Agostinho

2 Questions 5 Answers 0 Followers

Questions related from Luciana Agostinho

How can I get Raw data (NGS) from DNA samples with pathogenic variants in BRCA1/BRCA2 genes?

I am validating the screening of BRCA1 and BRCA2 genes by NGS (Ion Torrent). I would like to have more samples with pathogenic variants to compare with my samples and to confirm my validation...

22 April 2019 2,153 3 View

Same variants appeared in all patients analyzed with low coverage and Phred score (less then 20). What does it mean?

Hi Everybody, I am validating a BRCA 1 2 Panel from Thermo Fisher. The Hot Spot variants are ok (good coverage with 80-100 reads), but I am worried about No Call variants. In my first chip (8...

01 January 1970 6,826 4 View