Bieder, Andrea Einarsdottir, Elisabet Matsson, Hans Nilsson, Harriet E. Eisfeldt, Jesper Dragomir, Anca Paucar, Martin Granberg, Tobias Li, Tie-Qiang Lindstrand, Anna
...
Published in
BMC Medical Genetics
BackgroundDevelopmental dyslexia (DD) is a neurodevelopmental learning disorder with high heritability. A number of candidate susceptibility genes have been identified, some of which are linked to the function of the cilium, an organelle regulating left-right asymmetry development in the embryo. Furthermore, it has been suggested that disrupted lef...
Nelwan, Erni Juwita Puspandari, Nelly Paramita, Rafika Indah Erlina, Linda Renesteen, Editha Fadilah, Fadilah
Published in
Data in Brief
Bloodstream infections (BSIs) are some of the most devastating preventable complications in critical care units. Of the bacterial causes of BSIs, Escherichia coli is the most common among Enterobacteriaceae. Bacteria resistant to therapeutic antibiotics represent a significant global health challenge. In this study, we present whole genome sequence...
Kerr, Katie McAneney, Helen Smyth, Laura J. Bailie, Caitlin McKee, Shane McKnight, Amy Jayne
Published in
Orphanet Journal of Rare Diseases
BackgroundPatients with rare diseases face unique challenges in obtaining a diagnosis, appropriate medical care and access to support services. Whole genome and exome sequencing have increased identification of causal variants compared to single gene testing alone, with diagnostic rates of approximately 50% for inherited diseases, however integrate...
Posner, Noah (author) Moonen, Djoshua (author) Tariq, Sameer (author)
Modern societies manage an ever increasing amount of data. By mining
these data-sets, it is possible to gain understanding of problems. Through a
process of informed consent companies have been able to sequence the genome
of large populations. Providing insight to the consumer about their family
lineage and possible future risks that they could face. A...
Nimmo, Camus Brien, Kayleen Millard, James Grant, Alison D Padayatchi, Nesri Pym, Alexander S O'Donnell, Max Goldstein, Richard Breuer, Judith Balloux, François
...
Published in
EBioMedicine
Studying within-host genetic diversity of Mycobacterium tuberculosis (Mtb) in patients during treatment may identify adaptations to antibiotic and immune pressure. Understanding the significance of genetic heteroresistance, and more specifically heterozygous resistance-associated variants (RAVs), is clinically important given increasing use of rapi...
Yoon, Jung-Ki Kim, Taek Soo Kim, Jong-Il Yim, Jae-Joon
Published in
BMC Genomics
BackgroundNontuberculous mycobacterium (NTM) species are ubiquitous microorganisms. NTM pulmonary disease (NTM-PD) is thought to be caused not by human-to-human transmission but by independent environmental acquisition. However, recent studies using next-generation sequencing (NGS) have reported trans-continental spread of Mycobacterium abscessus a...
Räisänen, Kati Lyytikäinen, Outi Kauranen, Jari Tarkka, Eveliina Forsblom-Helander, Benita Grönroos, Juha O Vuento, Risto Arifulla, Dinah Sarvikivi, Emmi Toura, Saija
...
Published in
European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology
Carbapenemase-producing Enterobacterales (CPE) pose an increasing threat to patient safety and healthcare systems globally. We present molecular epidemiology of CPE in Finland during 2012-2018 with detailed characteristics of CPE strains causing clusters during the same time period. All Finnish clinical microbiology laboratories send Enterobacteral...
Shah, Zalak Adams, Matthew Moser, Kara A. Shrestha, Biraj Stucke, Emily M. Laufer, Miriam K. Serre, David Silva, Joana C. Takala-Harrison, Shannon
Published in
Malaria Journal
BackgroundOwing to the large amount of host DNA in clinical samples, generation of high-quality Plasmodium falciparum whole genome sequencing (WGS) data requires enrichment for parasite DNA. Enrichment is often achieved by leukocyte depletion of infected blood prior to storage. However, leukocyte depletion is difficult in low-resource settings and ...
Niemiec, Emilia Howard, Heidi Carmen
The SIENNA project - Stakeholder-informed ethics for new technologies with high socio-economic and human rights impact - has received funding under the European Union’s H2020 research and innovation programme under grant agreement No 741716
Hebbar, Malavika Mefford, Heather C.
Published in
F1000Research
Developmental and epileptic encephalopathies (DEEs) are a group of severe, early onset epilepsies characterized by refractory seizures, developmental delay or regression associated with ongoing epileptic activity, and generally poor prognosis. DEE is genetically and phenotypically heterogeneous, and there is a plethora of genetic testing options to...
