Koen Deserranno

Ph.D. student @UGent Laboratory of Pharmaceutical Biotechnology
Currently studying the field of pharmacogenomics and single cell transcriptomics

[Laurentijn Tilleman @LaurentijnT]

Interessante blog op @eos_wetenschap van @KoenDeserranno https://t.co/cO4u11bbUE

[Koen Deserranno @KoenDeserranno]

@LaurentijnT and I recently developed a @nanopore panel-based pharmacogenomics test, testing a large panel of genes. ApoE is one of those genes. We illustrate how long-read DNA-sequencing allows better results. No Leqembi for HG005, two copies of ApoE4 are present! 5/5 @ugent

[Koen Deserranno @KoenDeserranno]

Leqembi is not the first drug for which DNA-based medication use is proposed. Also for frequently used drugs in heart, pain, and psychiatric diseases, guidelines describing DNA-based dosage adjustments are available. @cpicpgx #pharmacogenomics #farmacogenetica

[Koen Deserranno @KoenDeserranno]

The ApoE4 variant is defined by the presence of the 'C' building block at both locations. Patients carrying the ApoE4 variant allele on the maternal as well as the paternal DNA copy, are excluded for the EMA recommendation. They have a larger risk of adverse reactions. 3/5

[Koen Deserranno @KoenDeserranno]

EMA gave a positive recommendation only for patients having max. 1 copy of the ApoE4 variant in their DNA. The ApoE4 variant is defined by the presence of a specific nucleotide, a building block of DNA, at two locations (variants, denoted by rsID) in the ApoE gene. @pharmgkb 2/5

[Koen Deserranno @KoenDeserranno]

Yesterday, @EMA_News gave a positive advice for Leqembi, a drug for alleviating symptoms of Alzheimer's disease. Curious, because in July '24, the advice was negative. What changed?
Enter #pharmacogenomics! How can #pharmacogenomics help? 1/5
#dna #Alzheimer #Leqembi #gezondheid

[Koen Deserranno @KoenDeserranno]

Ook interesse om eiwitten, die andere bouwstenen van leven, te wegen om de volgende pandemie te vermijden? Kom ook luisteren naar @BartVP en @MaartenDhaenens op Dag van de Wetenschap. (2/2)

[Koen Deserranno @KoenDeserranno]

Wist je dat jouw DNA mee bepaalt hoe je op medicijnen reageert? Wandel jij straks met een DNA-paspoort de apotheek binnen? Opgesteld met de nieuwste techniek? Ontdek farmacogenetica op de Dag Van De Wetenschap op 24/11 15u30 (1/2) @ugent @bibdekrook https://t.co/Uo9LJrIBt5

[Koen Deserranno @KoenDeserranno]

The long-reads permit direct haplotype phasing and strengthen star-allele calling of the GIAB samples compared to the Get-RM reference. We show that the ability to call star-alleles based on @nanopore data is only limited by the tools available. More info in the paper! (2/2)

[Koen Deserranno @KoenDeserranno]

Paper out! Using AS on @nanopore PromethION to enrich 1036 pharmacogenomic genes from @pharmgkb, we show > 99% recall & precision. We improved star-alleles of 5 GIAB references! Great potential to improve drug therapy! @LaurentijnT
#WYMM https://t.co/RPKzL2wEop (1/2)

[Koen Deserranno @KoenDeserranno]

Nice start of the week receiving the poster award certificate of my talk and poster on pharmacogenomics at the latest London Calling!
@nanopore #nanoporeconf Paper on its way!

[Koen Deserranno @KoenDeserranno]

Last week, I had the pleasure to present my research on pharmacogenomics on the main stage of @nanopore London Calling 2023. #NanoporeConf Great atmosphere and a lot of new contacts! Looking forward to the new innovations! Manuscript in progress! @LaurentijnT @NXTGNT_UGent

[Koen Deserranno @KoenDeserranno]

Looking forward and proud to present my research on the use of @nanopore sequencing for pharmacogenomics at London Calling 2023! Mark Thursday 18th of May! @NanoporeConf @LaurentijnT @NXTGNT_UGent

[nxtgnt @NXTGNT_UGent]

Interesting ONT projects this week, resulting in running 6 @nanopore PromethION R10.4.1 flow cells simultaneously, including a.o. native barcoding and adaptive sampling!
@KoenDeserranno @LaurentijnT @NGScore_UGent

[Koen Deserranno @KoenDeserranno]

@TJesse62 @nanopore @NXTGNT_UGent @LaurentijnT We didn't, input genomic DNA had an average length of about 18 kb.

[Koen Deserranno @KoenDeserranno]

First run on @nanopore PromethION combining native barcoding prep and adaptive sampling @NXTGNT_UGent

SQK-NBD114.24 on 3 samples✅
R10.4.1 at 400 bps✅
AS targeting 5 % of Grch38 ✅

Still sequencing, but output (45 Gb) not great.
Together with @LaurentijnT. Now data-analysis!

[Koen Deserranno @KoenDeserranno]

@conanyangqun @TJesse62 @nanopore @illumina @nxtgnt In total, we achieved 50.35 million reads, equal to 44.32 Gbases. We flushed our flow cell after one day of sequencing and reloaded with the second part of the library.

[Koen Deserranno @KoenDeserranno]

Some weeks have it all.
Performing @nanopore PromethION adaptive sampling DNA sequencing for pharmacogenetics and @illumina #smartseq3xpress RNA sequencing for my single cell transcriptomics project @nxtgnt sequencing core. #grateful

[Koen Deserranno @KoenDeserranno]

@TJesse62 @nanopore @illumina @nxtgnt Indeed, using AS on PromethION on a first DNA sample, targeting 0.7% of the human genome. Median on-target coverage about 90X, about 6 times enrichment vs regions outside .bed file. Run still done using LSK110 on R.9.4.1 flow cell, next month using LSK114 on R 10.4.1 !

[Koen Deserranno @KoenDeserranno]

Proud to have contributed to this publication and share it as my first academical co-authorship! Follow-up research in progress ...

[Laurentijn Tilleman @LaurentijnT]

We found CYP2D6-CYP2D7 hybrid with Cas9 targeted #nanopore sequencing that goes undetected by other assays, now published at #PLOSGenetics https://t.co/PhCEp4ySRa