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Heterozygous HTRA1 missense mutation in CADASIL-like family disease BJMBR
Wu,Xiaowei; Li,Changxin; Mao,Jinming; Li,Ling; Liu,Yan; Hou,Yao.
The aim of this study was to find related pathogenic genes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in (CADASIL)-like patients. The direct sequencing and high-throughput multiplex polymerase chain reaction (PCR) was performed to screen for related genes. The clinical and imaging data of a CADASIL-like patient (the pro-band) and his family members were collected. At first, the known hereditary cerebral vascular genes of the pro-band were screened with direct sequencing to find candidate gene mutations. High-throughput multiplex PCR was then used to analyze the single nucleotide polymorphism of the candidate gene in the family members. The results showed that there was missense mutation of the high...
Tipo: Info:eu-repo/semantics/article Palavras-chave: HTRA1; CADASIL-like; SNP; Cerebral small vessel disease.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000500602
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The optimal number of partial least squares components in genomic selection for pork pH Ciência Rural
Silveira,Fernanda Gomes da; Duarte,Darlene Ana Souza; Chaves,Lucas Monteiro; Silva,Fabyano Fonseca e; Filho,Ivan Carvalho; Duarte,Marcio de Souza; Lopes,Paulo Sávio; Guimarães,Simone Eliza Facioni.
ABSTRACT: The main application of genomic selection (GS) is the early identification of genetically superior animals for traits difficult-to-measure or lately evaluated, such as meat pH (measured after slaughter). Because the number of markers in GS is generally larger than the number of genotyped animals and these markers are highly correlated owing to linkage disequilibrium, statistical methods based on dimensionality reduction have been proposed. Among them, the partial least squares (PLS) technique stands out, because of its simplicity and high predictive accuracy. However, choosing the optimal number of components remains a relevant issue for PLS applications. Thus, we applied PLS (and principal component and traditional multiple regression)...
Tipo: Info:eu-repo/semantics/article Palavras-chave: SNP; Genomic prediction; Meat quality.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-84782017000100652
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