Luciana Agostinho

3 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 2,205 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 6,877 4 View

CENPJ mutation in heterozygous and VUS in ANKRD11 and KIF5C in one symptomatic child

Has anyone encountered a patient with a heterozygous mutation (pathogenic) in the CENPJ gene and observed symptoms? Or a VUS variant in ANKRD11? I have a patient with hydrocephalus (Chiari type...

01 January 1970 1,645 0 View