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vancouver,
canada
Aquí son las 3:12 p. m.
Se unió el octubre 5, 2016
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Ekaterina N.
@ekaterinakat
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vancouver,
canada
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R programmer, statistician, biostatistician
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Educación
post-doctoral degree
(2 años)
PhD
(3 años)
Master
(5 años)
Calificaciones
International English Language Testing System (IELTS) - Academic
International English Language Testing System (IELTS)
2015
I had passed IELTS test with score of 7
Publicaciones
Familial aggregation of Parkinson's disease in the Faroe Islands.
Movement Disorders
Complete ascertainment of all patients with PD was performed, including 217 cases and 251 control subjects. All patients were neurologically assessed and diagnosed using UK Brain Bank criteria and Hohn and Yahr staging. Relative risk and risk ratios were calculated with respect to the general population. Clinically, patients are similar; however, they are more likely to have affected relatives than randomly selected control subjects, matched by sex and age.
Biclustering by Resampling.
Computational Intelligence Methods for Bioinformatics
Recently we proposed a biclustering technique based on the Possibilistic Clustering paradigm (PBC algorithm) that is able to find one bicluster at a time. In this paper we propose an improvement to the Possibilistic Biclustering algorithm (PBC Bagging) that permits to find find several biclusters by using the statistical method of Bootstrap aggregation.
We applied the algorithm to a synthetic data and to the Yeast dataset, obtaining fast convergence and good quality solutions.
A multi-Biclustering Combinatorial Based algorithm.
Computational Intelligence and Data Mining (CIDM), 2011 IEEE
In this paper we propose a novel biclustering technique, that we call Combinatorial Biclustering Algorithm (BCA). This technique permits to solve the following problems: 1) classification of data with respect to rows and columns together; 2) discovering of the overlapped biclusters; 3) definition of the minimal number of rows and columns in biclusters; 4) finding all biclusters together. We apply our model to two synthetic and one real biological data sets and show the results.
An improved combinatorial biclustering algorithm.
Neural Computing and Applications Vol. 22
In this paper, a new biclustering algorithm is proposed, hereafter denoted as combinatorial biclustering algorithm (CBA), that addresses the problems listed above. The algorithm analyzes the data finding biclusters of the desired size and allowable error. CBA performances are compared with the ones of other bicluster algorithms by discussing the output of different methods once running them on a synthetic data set.
Exome sequencing identifies mutations in KIF14
Clinical genetics
We used family-based whole-exome sequencing in order to identify causal variants for a recurrent pattern of an undescribed lethal fetal congenital anomaly syndrome. The phenotype was compatible with a ciliopathy, but not diagnostic of any known condition. We hypothesized biallelic disruption of a gene leading to a defect related to the primary cilium. We identified novel autosomal recessive truncating mutations in KIF14 that segregated with the phenotype.
LRRK2 parkinsonism in Tunisia and Norway: A comparative analysis of disease penetrance.
Neurology
In recent years the molecular etiology of parkinsonism has yielded to genetic analysis.
Mutations in the gene leucine-rich repeat kinase 2 (LRRK2) have the highest genotypic and
population attributable risk. Disparate penetrance estimates have been reported using a variety
of statistical analyses, ethnic populations and sample sizes. Here we compare the age-associated cumulative-incidence (penetrance) of LRRK2 p.G2019S patients from Tunisia and
Norway.
Single point mutation in Rabenosyn-5 in a female with intractable seizures.
Orphanet Journal of Rare Diseases
We report a 6.5 year-old female with a homozygous missense mutation in ZFYVE20, encoding Rabenosyn-5 (Rbsn-5), a highly conserved multi-domain protein implicated in receptor-mediated endocytosis. Whole exome sequencing followed by Sanger sequencing confirmed a rare (frequency:0.003987) homozygous missense mutation, g.15,116,371 G>A (c.1273G>A), in ZFYVE20.
Recurrent triploidy due to a failure to complete maternal meiosis II
Molecular Human Reproduction
Based on the hypothesis that an inherited autosomal-dominant maternal predisposition would explain the phenotype, whole-exome sequencing of the proband and her parents was undertaken to identify potential candidate variants. After filtering for quality and rarity, potentially damaging variants shared between the proband and her mother were identified in 47 genes.
α-synuclein genetic variability: A biomarker for dementia in Parkinson's disease.
American Neurological Association.
We have used targeted high-throughput sequencing to characterize the 135kb SNCA locus in a large multi-national cohort of patients with PD, PDD, DLB and healthy controls. An analysis of 43 tagging single nucleotide polymorphisms across the SNCA locus shows two distinct association profiles for symptoms of parkinsonism and/or dementia, respectively towards the 3' or the 5' of the SNCA gene.
DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism
The Lancet Neurology
Leucine-rich repeat kinase 2 (LRRK2) mutation 6055G→A (Gly2019Ser) accounts for roughly 1% of patients with Parkinson's disease in white populations, 13–30% in Ashkenazi Jewish populations, and 30–40% in North African Arab-Berber populations, although age of onset is variable. Some carriers have early-onset parkinsonism, whereas others remain asymptomatic despite advanced age. We aimed to use a genome-wide approach to identify genetic variability that directly affects LRRK2 Gly2019Ser penetrance
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