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1.
Genome Biol ; 25(1): 104, 2024 04 19.
Artigo em Inglês | MEDLINE | ID: mdl-38641842

RESUMO

Single-cell sequencing datasets are key in biology and medicine for unraveling insights into heterogeneous cell populations with unprecedented resolution. Here, we construct a single-cell multi-omics map of human tissues through in-depth characterizations of datasets from five single-cell omics, spatial transcriptomics, and two bulk omics across 125 healthy adult and fetal tissues. We construct its complement web-based platform, the Single Cell Atlas (SCA, www.singlecellatlas.org ), to enable vast interactive data exploration of deep multi-omics signatures across human fetal and adult tissues. The atlas resources and database queries aspire to serve as a one-stop, comprehensive, and time-effective resource for various omics studies.


Assuntos
Ascomicetos , Multiômica , Adulto , Humanos , Bases de Dados Factuais , Feto , Perfilação da Expressão Gênica
2.
Artigo em Inglês | MEDLINE | ID: mdl-33229247

RESUMO

BACKGROUND: Imitation deficits are prevalent in autism spectrum conditions (ASCs) and are associated with core autistic traits. Imitating others' actions is central to the development of social skills in typically developing populations, as it facilitates social learning and bond formation. We present a Computerized Assessment of Motor Imitation (CAMI) using a brief (1-min), highly engaging video game task. METHODS: Using Kinect Xbox motion tracking technology, we recorded 48 children (27 with ASCs, 21 typically developing) as they imitated a model's dance movements. We implemented an algorithm based on metric learning and dynamic time warping that automatically detects and evaluates the important joints and returns a score considering spatial position and timing differences between the child and the model. To establish construct validity and reliability, we compared imitation performance measured by the CAMI method to the more traditional human observation coding (HOC) method across repeated trials and two different movement sequences. RESULTS: Results revealed poorer imitation in children with ASCs than in typically developing children (ps < .005), with poorer imitation being associated with increased core autism symptoms. While strong correlations between the CAMI and HOC methods (rs = .69-.87) confirmed the CAMI's construct validity, CAMI scores classified the children into diagnostic groups better than the HOC scores (accuracyCAMI = 87.2%, accuracyHOC = 74.4%). Finally, by comparing repeated movement trials, we demonstrated high test-retest reliability of CAMI (rs = .73-.86). CONCLUSIONS: Findings support the CAMI as an objective, highly scalable, directly interpretable method for assessing motor imitation differences, providing a promising biomarker for defining biologically meaningful ASC subtypes and guiding intervention.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Transtorno do Espectro Autista/diagnóstico , Transtorno Autístico/diagnóstico , Criança , Humanos , Comportamento Imitativo , Aprendizagem , Reprodutibilidade dos Testes
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