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Region Hovedstaden - en del af Københavns Universitetshospital
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Expertise

non-invasive prenatal testing;  Aneuploidy; Massive parallel sequencing; bioinformatics; clinical genetics; laboratory work-flow; data analysis; bash; R; Perl; Linux

Primære forskningsområder

My work have mainly been establishing non-invasive prenatal testing (NIPT) using massive parallel sequencing (Ion proton platform). My work have included labwork and the bioinformatic analysis of sequence data. The pipeline is based on open-source scripts for fetal aneuploidy detection and fetal DNA fraction estimation as well as an in-house developed fetal sex determination algorithm. The resulting pipeline involves bash, perl and R scripting. NIPT have been live since first of September 2015.

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Aktuel forskning

Currently i am working on improving the data analysis for our non-invasive prenatal testing. This includes automation of analysis pipelines for faster turn-around-time as well as implementing new bioinformatic procedures into the clininc.

Mulige interessekonflikter

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