Detection of mosaics in hemophilia A by deep Ion Torrent sequencing and droplet digital PCR.

ABSTRACT:

Background

The occurrence of mosaicism in hemophilia A (HA) has been investigated in several studies using different detection methods.

Objectives

To characterize and compare the ability of AmpliSeq/Ion Torrent sequencing and droplet digital polymerase chain reaction (ddPCR) for mosaic detection in HA.

Methods

Ion Torrent sequencing and ddPCR were used to analyze 20 healthy males and 16 mothers of sporadic HA patients.

Results

An error-rate map over all coding positions and all positions reported as mutated in the F8-specific mutation database was produced. The sequencing produced a mean read depth of >1500X where >97% of positions were covered by >100 reads. Higher error frequencies were observed in positions with A or T as reference allele and in posit

SUBMITTER: Manderstedt E 

PROVIDER: S-EPMC7590296 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature