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1.
Nat Commun ; 13(1): 4384, 2022 08 04.
Artigo em Inglês | MEDLINE | ID: mdl-35927245

RESUMO

Graph-based genome reference representations have seen significant development, motivated by the inadequacy of the current human genome reference to represent the diverse genetic information from different human populations and its inability to maintain the same level of accuracy for non-European ancestries. While there have been many efforts to develop computationally efficient graph-based toolkits for NGS read alignment and variant calling, methods to curate genomic variants and subsequently construct genome graphs remain an understudied problem that inevitably determines the effectiveness of the overall bioinformatics pipeline. In this study, we discuss obstacles encountered during graph construction and propose methods for sample selection based on population diversity, graph augmentation with structural variants and resolution of graph reference ambiguity caused by information overload. Moreover, we present the case for iteratively augmenting tailored genome graphs for targeted populations and demonstrate this approach on the whole-genome samples of African ancestry. Our results show that population-specific graphs, as more representative alternatives to linear or generic graph references, can achieve significantly lower read mapping errors and enhanced variant calling sensitivity, in addition to providing the improvements of joint variant calling without the need of computationally intensive post-processing steps.


Assuntos
Análise de Dados , Sequenciamento de Nucleotídeos em Larga Escala , Genoma Humano/genética , Genômica/métodos , Humanos , Análise de Sequência de DNA/métodos , Software
2.
Artigo em Inglês | MEDLINE | ID: mdl-24109996

RESUMO

Ultra-compliant neural probes implanted into tissue using a molded, biodissolvable sodium carboxymethyl cellulose (Na-CMC)-saccharide composite needle delivery vehicle are subjected to fluid-structure interactions that can displace the recording site of the probe with respect to its designed implant location. We applied particle velocimetry to analyze the behavior of ultra-compliant structures under different implantation conditions for a range of CMC-based materials and identified a fluid management protocol that resulted in the successful targeted depth placement of the recording sites.


Assuntos
Encéfalo/fisiologia , Fenômenos Mecânicos , Polímeros/química , Reologia , Animais , Carboximetilcelulose Sódica/química , Bovinos , Glucose/administração & dosagem , Microscopia de Fluorescência , Agulhas , Imagem Óptica , Solubilidade , Gravação em Vídeo
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