排序方式: 共有101条查询结果,搜索用时 15 毫秒
1.
Naiara Akizu Nuri?M. Shembesh Tawfeg Ben-Omran Laila Bastaki Asma Al-Tawari Maha?S. Zaki Roshan Koul Emily Spencer Rasim?Ozgur Rosti Eric Scott Elizabeth Nickerson Stacey Gabriel Gilberto da?Gente Jiang Li Matthew?A. Deardorff Laura?K. Conlin Margaret?A. Horton Elaine?H. Zackai Elliott?H. Sherr Joseph?G. Gleeson 《American journal of human genetics》2013,92(3):392-400
The corpus callosum is the principal cerebral commissure connecting the right and left hemispheres. The development of the corpus callosum is under tight genetic control, as demonstrated by abnormalities in its development in more than 1,000 genetic syndromes. We recruited more than 25 families in which members affected with corpus callosum hypoplasia (CCH) lacked syndromic features and had consanguineous parents, suggesting recessive causes. Exome sequence analysis identified C12orf57 mutations at the initiator methionine codon in four different families. C12orf57 is ubiquitously expressed and encodes a poorly annotated 126 amino acid protein of unknown function. This protein is without significant paralogs but has been tightly conserved across evolution. Our data suggest that this conserved gene is required for development of the human corpus callosum. 相似文献
2.
3.
Allan D. McDevitt Naiara Guimarães Sales Samuel S. Browett Abbie O. Sparnenn Stefano Mariani Owen S. Wangensteen Ilaria Coscia Chiara Benvenuto 《Journal of fish biology》2019,95(2):679-682
We focus on a case study along an English canal comparing environmental DNA (eDNA) metabarcoding with two types of electrofishing techniques (wade-and-reach and boom-boat). In addition to corroborating data obtained by electrofishing, eDNA provided a wider snapshot of fish assemblages. Given the semi-lotic nature of canals, we encourage the use of eDNA as a fast and cost-effective tool to detect and monitor whole fish communities. 相似文献
4.
5.
David Mosen-Ansorena Naiara Telleria Silvia Veganzones Virginia De la Orden Maria Luisa Maestro Ana M Aransay 《BMC genomics》2014,15(1)
Background
Deviations in the amount of genomic content that arise during tumorigenesis, called copy number alterations, are structural rearrangements that can critically affect gene expression patterns. Additionally, copy number alteration profiles allow insight into cancer discrimination, progression and complexity. On data obtained from high-throughput sequencing, improving quality through GC bias correction and keeping false positives to a minimum help build reliable copy number alteration profiles.Results
We introduce seqCNA, a parallelized R package for an integral copy number analysis of high-throughput sequencing cancer data. The package includes novel methodology on (i) filtering, reducing false positives, and (ii) GC content correction, improving copy number profile quality, especially under great read coverage and high correlation between GC content and copy number. Adequate analysis steps are automatically chosen based on availability of paired-end mapping, matched normal samples and genome annotation.Conclusions
seqCNA, available through Bioconductor, provides accurate copy number predictions in tumoural data, thanks to the extensive filtering and better GC bias correction, while providing an integrated and parallelized workflow.Electronic supplementary material
The online version of this article (doi:10.1186/1471-2164-15-178) contains supplementary material, which is available to authorized users. 相似文献6.
Naiara?Guimar?es?Sales Tiago?Casarim?Pessali Francisco?Ricardo?Andrade Neto Daniel?Cardoso?CarvalhoEmail author 《Biological invasions》2018,20(3):555-566
Invasive species are one of the greatest threats to biodiversity, due to competition, predation, pathogen spread, and hybridization. The latter may remain undetected and impair the survival of species, due to genetic admixture and hybrid swarming (i.e., interbreeding between hybrid individuals and backcrossing with parental species). The impact of invasive species remains poorly studied in the Neotropical ichthyofauna, particularly when considering the potential for hybridization between native and introduced species. Due to fisheries importance and its commercial value, species of the Prochilodus genus have been introduced to other catchments in Brazil. Here, we evaluate the introduction of non-native Prochilodus species and the potential effect of hybridization with the native migratory fish P. hartii. To evaluate possible introgression of Prochilodus spp. to P. hartii in the Jequitinhonha river basin (JRB), we employed a morphogenetic approach, analysing 219 specimens sampled from a broad extent of the river basin. Morphological analyses using meristic characters were incongruent with molecular identification by DNA barcoding (COI) in 22.83% of the analysed specimens. Haplotypes from three non-native species (P. argenteus, P. costatus, and P. lineatus) were recovered from specimens morphologically identified as P. hartii. Hybridization between P. hartii and introduced species was confirmed using co-dominant nuclear microsatellite markers. We observed a pronounced introgression pattern in this Neotropical basin, and paradoxically, despite being one of the most abundant migratory species native to the JRB, due to ongoing levels of introgression, P. hartii’s genetic integrity and conservation might be affected. 相似文献
7.
8.
Soon, the genetic basis of most human Mendelian diseases will be solved. The next challenge will be to leverage this information to uncover basic mechanisms of disease and develop new therapies. To understand how this transformation is already beginning to unfold, we focus on the ciliopathies, a class of multi-organ diseases caused by disruption of the primary cilium. Through a convergence of data involving mutant gene discovery, proteomics, and cell biology, more than a dozen phenotypically distinguishable conditions are now united as ciliopathies. Sitting at the interface between simple and complex genetic conditions, these diseases provide clues to the future direction of human genetics. 相似文献
9.
Alonso Alberto Pérez Javier Monroy Silvia López-Rojo Naiara Basaguren Ana Bosch Jaime Boyero Luz 《Ecosystems》2021,24(6):1436-1449
Ecosystems - Leaf litter of alder (Alnus glutinosa) is a key resource to detrital stream food webs. Due to its high quality and palatability, it is readily colonised by microorganisms and consumed... 相似文献