A5062737501- Natural Language Processing Techniques
- Topic Modeling
- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Semantic Web and Ontologies
- Language and cultural evolution
- Text Readability and Simplification
- Lexicography and Language Studies
- Research Data Management Practices
- Digital Humanities and Scholarship
- Computational and Text Analysis Methods
- Authorship Attribution and Profiling
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Sexual Differentiation and Disorders
- Genetics and Neurodevelopmental Disorders
- Scientific Computing and Data Management
- Linguistic Variation and Morphology
- Linguistics and language evolution
- Congenital Anomalies and Fetal Surgery
- Autism Spectrum Disorder Research
- Biomedical Text Mining and Ontologies
- Chromosomal and Genetic Variations
- Historical Linguistics and Language Studies
- Advanced Text Analysis Techniques
- scientometrics and bibliometrics research
King's College London
2021-2024
University of Neuchâtel
2024
The Alan Turing Institute
2017-2023
Administration for Community Living
2023
Tokyo Institute of Technology
2023
IT University of Copenhagen
2023
American Jewish Committee
2023
University of Cambridge
2017-2022
University of Oxford
2019-2022
The London College
2022
Down syndrome (DS), or trisomy 21, is a common disorder associated with several complex clinical phenotypes. Although hypotheses have been put forward, it unclear as to whether particular gene loci on chromosome 21 (HSA21) are sufficient cause DS and its features. Here we present high-resolution genetic map of phenotypes based an analysis 30 subjects carrying rare segmental trisomies various regions HSA21. By using state-of-the-art genomics technologies mapped at exon-level resolution...
Efforts to make research results open and reproducible are increasingly reflected by journal policies encouraging or mandating authors provide data availability statements. As a consequence of this, there has been strong uptake statements in recent literature. Nevertheless, it is still unclear what proportion these actually contain well-formed links data, for example via URL permanent identifier, if an added value providing such links. We consider 531, 889 articles published PLOS BMC,...
Thoracic aortic aneurysms leading to acute dissections (TAAD) can be inherited in families an autosomal dominant manner. As part of the spectrum clinical heterogeneity familial TAAD, we recently described with multiple members that had TAAD and intracranial or abdominal manner.To identify causative mutation a large family inheritance by performing exome sequencing 2 distantly related individuals identifying shared rare variants.A novel frame shift mutation, p. N218fs (c.652delA), was...
Lexical Semantic Change detection, i.e., the task of identifying words that change meaning over time, is a very active research area, with applications in NLP, lexicography, and linguistics. Evaluation currently most pressing problem as no gold standards are available to community, which hinders progress. We present results first shared addresses this gap by providing researchers an evaluation framework manually annotated, high-quality datasets for English, German, Latin, Swedish. 33 teams...
Individuals affected by restrictive cardiomyopathy (RCM) often develop heart failure at young ages resulting in early transplantation. Familial forms are mainly caused mutations sarcomere proteins and demonstrate a common genetic etiology with other inherited cardiomyopathies. Using next-generation sequencing, we identified two novel missense variants (p.S1624L; p.I2160F) filamin-C (FLNC), an actin-cross-linking protein expressed skeletal muscle, segregating families autosomal-dominant RCM....
The clinical phenotype of BAP1 hereditary cancer predisposition syndrome (MIM 614327) includes uveal melanoma (UM), cutaneous (CM), renal cell carcinoma (RCC), and mesothelioma. However, the frequency in patients with UM association other cancers are still not clear. In this study, we screened 46 previously untested, unrelated high risk for germline mutation . We also studied four additional a personal or family history suggestive syndrome. identified three pathogenic mutations (c.2050...
A growing volume of heritage data is being digitized and made available as text via optical character recognition (OCR).Scholars libraries are increasingly using OCR-generated for retrieval analysis.However, the process creating through OCR introduces varying degrees error to text.The impact these errors on natural language processing (NLP) tasks has only been partially studied.We perform a series extrinsic assessment -sentence segmentation, named entity recognition, dependency parsing,...
The human X and Y chromosomes share many blocks of similar DNA sequence. We conducted mapping nucleotide sequencing studies extensive, multi-megabase homologies between Yp Xq21, which do not recombine during male meiosis. confirmed built upon previous evidence that a inversion had occurred evolution: single contiguous segment Xq21 is homologous to two non-contiguous segments Yp. precisely defined sequenced the breakpoints, obtaining was mediated by recombination LINE-1 elements in otherwise...
Abstract Patients with Poland syndrome were ascertained through the British Columbia Health Surveillance Registry, hospital records, and practicing plastic orthopedic surgeons. Of 44 patients who ascertained, 28 had family histories taken examined. Physical findings were: absence of sternal head pectoralis major in all patients, symbrachydactyly most infrequent other associations such as imsilateral undescended testis, Möbius syndrome, clubfoot submucous cleft palate. Family “negative”...
Chromosome 4q deletion syndrome (4q- syndrome) is a rare condition, with an estimated incidence of 1 in 100,000. Although variable, the clinical spectrum commonly includes craniofacial, developmental, digital, skeletal, and cardiac involvement. Data on genotype-phenotype correlation within arm are limited. We present detailed genetic information by array CGH 20 patients deletions. identified patient who has ∼465 kb (186,770,069-187,234,800, hg18 coordinates) 4q35.1 all features for except...
Philippa Shoemark, Farhana Ferdousi Liza, Dong Nguyen, Scott Hale, Barbara McGillivray. Proceedings of the 2019 Conference on Empirical Methods in Natural Language Processing and 9th International Joint (EMNLP-IJCNLP). 2019.
Abstract Seven patients, including two sibs, with the Brachmann‐de Lange syndrome (BDLS) are presented as representative of different types BDLS in a proposed classification system. Type I (“classic”) patients have characteristic facial and skeletal changes using criteria diagnostic index Preus Rex. is distinguished from other subtypes by prenatal growth deficiency (< 2.5 S.D. below mean for gestation) becoming more severe postnatally 3.5 mean), moderate to profound psychomotor...