A5041169967- Obsessive-Compulsive Spectrum Disorders
- Autism Spectrum Disorder Research
- Biomedical Text Mining and Ontologies
- Genetic Associations and Epidemiology
- Chromosomal and Genetic Variations
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Sleep and related disorders
- Bioinformatics and Genomic Networks
- Plant Reproductive Biology
- Genetic factors in colorectal cancer
- Plant Virus Research Studies
- Machine Learning in Healthcare
- Semantic Web and Ontologies
- Hereditary Neurological Disorders
- Sleep and Wakefulness Research
- Virology and Viral Diseases
- BRCA gene mutations in cancer
- Cannabis and Cannabinoid Research
- Genetic diversity and population structure
- Uterine Myomas and Treatments
- IL-33, ST2, and ILC Pathways
- Cardiovascular Issues in Pregnancy
- Time Series Analysis and Forecasting
- Endometriosis Research and Treatment
- Genomic variations and chromosomal abnormalities
Institute for Molecular Medicine Finland
2023-2025
University of Helsinki
2023-2025
Purdue University West Lafayette
2018-2023
Ball State University
2021
Democritus University of Thrace
2014-2020
National University of Ireland
2014
Enterprise Ireland
2013
Ollscoil na Gaillimhe – University of Galway
2013
Highlights•Recurrent de novo variants identify a new high-confidence TD risk gene: CELSR3•Genes involved in cell polarity are more likely to be disrupted by variants•De sequence may carry simplex families, female probands•De CNVs occur 2 3 times often probands than matched controlsSummaryWe previously established the contribution of damaging Tourette disorder (TD) through whole-exome sequencing 511 trios. Here, we an additional 291 trios and analyze combined set 802 We observe...
Significance The question of colonization Europe by Neolithic people the Near East and their contribution to farming economy has been addressed with extensive archaeological studies many genetic investigations extant European Eastern populations. Here, we use DNA polymorphisms populations investigate patterns gene flow from Europe. Our data support hypothesis that migrants reached Anatolia. A maritime route island hopping was mainly used these reach Southern
Lichen planus (LP) is a T-cell-mediated inflammatory disease affecting squamous epithelia in many parts of the body, most often skin and oral mucosa. Cutaneous LP usually transient (OLP) chronic, so we performed large-scale genetic epidemiological study to address whether non-oral subgroups have shared or distinct underlying pathologies their overlap with autoimmune disease. Using lifelong records covering diagnoses, procedures, clinic identity from 473,580 individuals FinnGen study,...
Tic disorders are moderately heritable common psychiatric that can be highly troubling, both in childhood and adulthood. In this study, we report results obtained the first epigenome-wide association study (EWAS) of tic disorders. The subjects participants surveys at Netherlands Twin Register (NTR) NTR biobank project. were measured with a self-report version Yale Global Severity Scale Abbreviated (YGTSS-ABBR), included 8th wave data collection (2008). DNA methylation consisted 411,169...
Gilles de la Tourette Sydrome (TS) is a childhood onset neurodevelopmental disorder, characterized phenotypically by the presence of multiple motor and vocal tics. It often accompanied psychiatric comorbidities, with Attention Deficit/Hyperactivity Disorder (ADHD) among most common. The extensive co-occurrence two disorders suggests shared genetic background. A major step towards elucidation architecture TS was undertaken first Genome-wide Association Study (GWAS) reporting 552 SNPs that...
The Cancer Genome Atlas (TCGA) is a multidisciplinary, multi-institutional pilot project to create an atlas of genetic mutations responsible for cancer. One the aims this develop infrastructure making cancer related data publicly accessible, enable researchers anywhere around world make and validate important discoveries. However, in genome are organized as text archives set directories. Devising bioinformatics applications analyse such still challenging, it requires downloading very large...
The Cancer Genome Atlas (TCGA) is a multidisciplinary, multi-institutional effort to catalogue genetic mutations responsible for cancer using genome analysis techniques. One of the aims this project create comprehensive and open repository related molecular analysis, be exploited by bioinformaticians towards advancing knowledge. However, devising bioinformatics applications analyse such large dataset still challenging, as it often requires downloading archives parsing relevant text files....
Gilles de la Tourette Syndrome (GTS) is characterised by the presence of multiple motor and phonic tics with a fluctuating course intensity, frequency severity. Up to 90% patients GTS present comorbid conditions, most commonly attention-deficit/hyperactivity disorder (ADHD) obsessive-compulsive (OCD), thus providing an excellent model for exploration shared aetiology across disorders. TS-EUROTRAIN (FP7-PEOPLE-2012-ITN, Grant Agr.No.316978) Marie Curie Initial Training Network...
Background: Tourette Syndrome (TS) is a neurodevelopmental disorder that presents with motor and vocal tics early in childhood. The aim of this study was to investigate genetic variants the 3' untranslated region (3'UTR) TS candidate genes putative link microRNA (miRNA) mediated regulation or gene expression. Methods: We used an silico approach identify 32 3'UTR 18 putatively changing binding site for miRNAs. In sample composed cases controls (n = 290), as well family trios 148), we...
Successful development of novel therapies requires that clinical trials are conducted in patient cohorts with the highest benefit-to-risk ratio. Population-based biobanks comprehensive health and genetic data from large numbers individuals hold promise to facilitate identification trial participants, particularly when interventions need start while symptoms still mild, such as for Alzheimer's disease (AD). This study describes a process recall studies FinnGen. We demonstrate feasibility...
Gilles de la Tourette syndrome (GTS) is a neuropsychiatric disorder characterized by multiple motor and vocal tics. GTS complex disorder, with environmental factors several genes involved. Although variations within few such as AADAC, NRXN1, SLITRK1, HDC, IMMP2L have been tentatively associated (in small number of patients), the causative underlying pathophysiology remain unknown. In previous genome-wide association study (GWAS) single nucleotide polymorphism (SNP, rs2060546) near Netrin-4...
We previously established the contribution of de novo damaging sequence variants to Tourette disorder (TD) through whole exome sequencing 511 trios. Here, we an additional 291 TD trios and analyze combined set 802 observe overrepresentation in simplex but not multiplex families; identify two new high confidence risk genes, CELSR3 (Cadherin EGF LAG Seven-Pass G-Type Receptor 3) OPA1 (Mitochondrial Dynamin-Like GTPase); find that genes mutated patients are enriched for those related cell...
Abstract Tourette Syndrome (TS) is a childhood-onset neurodevelopmental disorder of complex genetic architecture, characterized by multiple motor tics and at least one vocal tic persisting for more than year. We performed genome-wide meta-analysis integrating novel TS cohort with previously published data, resulting in sample size 6,133 individuals 13,565 ancestry-matched controls. identified significant locus on chromosome 5q15 array-wide 2q24.2. Integration eQTL, Hi-C GWAS data implicated...
An important challenge in drug discovery and disease prognosis is to predict genes that are preferentially expressed one or a few tissues, i.e. showing considerably higher expression tissue(s) compared the others. Although several data sources methods have been published explicitly for this purpose, they often disagree it not evident how retrieve these distinguish true biological findings from those due choice-of-method and/or experimental settings. In work we developed computational...
There are situations where we need to understand a person's health register data, get an overview of it and inspect the details interest, preferably in short period time. Typical doctor seeing patient for very first time, or researcher trying what makes person outlier cohort. We have developed visualization tool, called LifeTrack, that will show whole history single view. The structure LifeTrack data view is based on concepts familiar target audience, allows one see both data.