Every year, our services contribute to many of our clients’ genomics papers. Here you find a selection of recent publications that involved Macrogen Europe’s sequencing services. To add your publication, please email


Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals

Giuseppe D’Alterio, Vito Alessandro Lasorsa et al.
Genetics in Medicine | May 2022 | doi: 10.1016/j.gim.2022.04.007

The Thousand Polish Genomes—A database of Polish variant allele frequencies

Elżbieta Kaja, Adrian Lejman et al.
International Journal of Molecular Sciences 23 (9): 4532 | April 2022 | doi: 10.3390/ijms23094532

Identification and characterization of Crumbs polarity complex proteins in Caenorhabditis elegans

Victoria G Castiglioni João J Ramalho et al.
Journal of Biological Chemistry 298 (4): 101786 | March 2022 | doi: 10.1016/j.jbc.2022.101786

Fast detection of SARS-CoV-2 variants including Omicron using one-step RT-PCR and Sanger sequencing

Mandy Bloemen, Annabel Rector et al.
Journal of Virological Methods 304: 114512 | March 2022 | doi: 10.1016/j.jviromet.2022.114512

Single-cell transcriptomics uncovers an instructive T-cell receptor role in adult γδ T-cell lineage commitment

Sara Scaramuzzino, Delphine Potier et al.
The EMBO Journal 41: e110023 | February 2022 | doi: 10.15252/embj.2021110023

Can DNA help trace the local trade of pangolins? Conservation genetics of white‑bellied pangolins from the Dahomey Gap (West Africa)

Stanislas Zanvo, Chabi AMS Djagoun et al.
BMC Ecology and Evolution 22: 16 | February 2022 | doi: 10.1186/s12862-022-01971-5

Single-cell transcriptomics uncovers an instructive T-cell receptor role in adult γδ T-cell lineage commitment

Sara Scaramuzzino, Delphine Potier et al.
The EMBO Journal, e110023 | January 2022 | doi: 10.15252/embj.2021110023

The lady from Barfüsser Church – molecular confirmation of the mummy’s identity through mitochondrial DNA of living relatives spanning 22 generations

Christina Wurst, Frank Maixner et al.
Forensic Science International: Genetics, 56: 102604 | January 2022 | doi: 10.1016/j.fsigen.2021.102604


The gRAMP CRISPR-Cas effector is an RNA endonuclease complexed with a caspase-like peptidase

Sam PB van Beljouw, Anna C Haagsma et al.
Science 373, 1349–1353 | September 2021 | doi: 10.1126/science.abk2718

Linear polyacrylamide is highly efficient in precipitating and purifying environmental and ancient DNA

Frank Maixner, Christian Mitterer et al.
Methods in Ecology and Evolution | November 2021 | doi: 10.1111/2041-210X.13772

The desmin mutation DES-c.735G>C causes severe restrictive cardiomyopathy by inducing in-frame skipping of exon-3

Andreas Brodehl, Carsten Hain et al.
Biomedicines 9(10): 1400 | October 2021 | doi: 10.3390/biomedicines9101400

Paleofeces analyses indicate blue cheese and beer consumption by Iron Age Hallstatt miners and a non-Westernized gut microbiome until the Baroque time

Frank Maixner, Mohamad S Sarhan et al.
Current Biology | October 2021 | doi: 10.1016/j.cub.2021.09.031

Metagenomic analysis of ancient dental calculus reveals unexplored diversity of oral archaeal Methanobrevibacter

Lena Granehäll, Kun D Huang et al.
Microbiome 9, 197 | September 2021 | doi: 10.1186/s40168-021-01132-8

The elusive parasite: Comparing macroscopic, immunological, and genomic approaches to identifying malaria in human skeletal remains from Sayala, Egypt (3rd-6th centuries AD)

Alvie L Mbouaka, Michelle Gamble et al.
Archaeological and Anthropological Sciences 13, 115 | June 2021 | doi: 10.1007/s12520-021-01350-z

DNA methylation profiling in mummified human remains from the eighteenth century

Marco Schmidt, Frank Maixner et al.
Scientific Reports 11, 15493 | July 2021 | doi: 10.1038/s41598-021-95021-7

Effect of earthworms on mycorrhization, root morphology and biomass of silver fir seedlings inoculated with black summer truffle (Tuber aestivum Vittad.)

Tina Unuk Nahberger, Gian Maria Niccolò Benucci et al.
Scientific Reports
, 11; no. 6167 | March 2021 | doi: 10.1038/s41598-021-85497-8

Hemi- and homozygous loss-of-function mutations in DSG2 (Desmoglein-2) cause recessive arrhythmogenic cardiomyopathy with an early onset

Andreas Brodehl, Alexey Meshkov et al.
International Journal Molecular Sciences 22(7): 3786| April 2021 doi: 10.3390/ijms22073786.PMID: 33917638

First report of grapevine virus H (GVH) in grapevine in Greece

Polina Panailidou, Leonidas Lotos et al.
Plant Disease
| March 2021 | doi: 10.1094/PDIS-01-21-0179-PDN

Multi locus sequence typing and spa typing of Staphylococcus Aureus isolated from the milk of cows with subclinical mastitis in Croatia

Luka Cvetnić, Marko Samardžija et al.
, 31; 9(4): 725 | March 2021 | doi: 10.3390/microorganisms9040725

First report of raspberry latent virus in Europe

Darko Jevremović and Svetlana A. Paunović
Journal of Plant Pathology
| April 2021 | doi: 10.1007/s42161-021-00833-1

Development of a Cas12a-based genome editing tool for moderate thermophiles

Prarthana Mohanraju, Ioannis Mougiakos et al.
The CRISPR Journal
, 4; 1 | February 2021 | doi: 10.1089/crispr.2020.0086

A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy

Andreas Brodehl, Jürgen Weiss et al.
Journal of Molecular and Cellular Cardiology 141: 17–29 | March 2020 | doi: 10.1016/j.yjmcc.2020.03.006