全部文献期刊学位论文会议报纸专利标准年鉴图书|学者科研项目
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作者:Hidenobu Segawa , Yoji Kukita , Kikuya Kato
来源:[J].BMC Genomics(IF 4.397), 2017, Vol.18 (1)Springer
摘要:... Next-generation sequencing is changing the landscape of genotyping. In addition to high throughput of data, its additional advantage is that DNA templates are derived from single molecules, which is a strong merit for the phasing problem. Although most currently developed tec...
作者:Carlos Guzman , Iván D’Orso
来源:[J].BMC Bioinformatics(IF 3.024), 2017, Vol.18 (1)Springer
摘要:Next-generation sequencing (NGS) approaches are commonly used to identify key regulatory networks that drive transcriptional programs. Although these technologies are frequently used in biological studies, NGS data analysis remains a challenging, time-consuming, and often irrepro...
作者:Chun Hang Au , Anskar Y. H. Leung , Ava Kwong ...
来源:[J].BMC Genomics(IF 4.397), 2017, Vol.18 (1)Springer
摘要:Complex insertions and deletions (indels) from next-generation sequencing (NGS) data were prone to escape detection by currently available variant callers as shown by large-scale human genomics studies. Somatic and germline complex indels in key disease driver genes could be miss...
作者:Sojeong Ka , Sunho Lee , Jonghee Hong ...
来源:[J].BMC Bioinformatics(IF 3.024), 2017, Vol.18 (1)Springer
摘要:Several recent studies showed that next-generation sequencing (NGS)-based human leukocyte antigen (HLA) typing is a feasible and promising technique for variant calling of highly polymorphic regions. To date, however, no method with sufficient read depth has completely solved the...
作者:Fan Zhang , Patrick Flaherty
来源:[J].BMC Bioinformatics(IF 3.024), 2017, Vol.18 (1)Springer
摘要:The detection of rare single nucleotide variants (SNVs) is important for understanding genetic heterogeneity using next-generation sequencing (NGS) data. Various computational algorithms have been proposed to detect variants at the single nucleotide level in mixed samples. Yet, t...
作者:Yong Chen , Li Zhao , Yi Wang ...
来源:[J].BMC Bioinformatics(IF 3.024), 2017, Vol.18 (1)Springer
摘要:Targeted next-generation sequencing (NGS) has been widely used as a cost-effective way to identify the genetic basis of human disorders. Copy number variations (CNVs) contribute significantly to human genomic variability, some of which can lead to disease. However, effective dete...
作者:Nadine Jalkh , Eliane Chouery , Zahraa Haidar ...
来源:[J].BMC Medical Genomics(IF 3.466), 2017, Vol.10 (1)Springer
摘要:Familial breast cancer (BC) represents 5 to 10% of all BC cases. Mutations in two high susceptibility BRCA1 and BRCA2 genes explain 16–40% of familial BC, while other high, moderate and low susceptibility genes explain up to 20% more of BC families. The Lebanese reported pre...
作者:Katsutomo Sasaki , Nobutaka Mitsuda , Kenji Nashima ...
来源:[J].BMC Genomics(IF 4.397), 2017, Vol.18 (1)Springer
摘要:Chrysanthemum morifolium is one of the most economically valuable ornamental plants worldwide. Chrysanthemum is an allohexaploid plant with a large genome that is commercially propagated by vegetative reproduction. New cultivars with different floral traits, such as color, morpho...
作者:Chao Shen , Jingbing Wang , Xiaotang Wu ...
来源:[J].BMC Ophthalmology(IF 1.444), 2017, Vol.17 (1)Springer
摘要:Congenital cataract is the most frequent cause of blindness during infancy or early childhood. To date, more than 40 loci associated with congenital cataract have been identified, including at least 26 genes on different chromosomes associated with inherited cataract. This presen...
作者:Nadejda Valtcheva , Franziska M. Lang , Aurelia Noske ...
来源:[J].BMC Cancer(IF 3.333), 2017, Vol.17 (1)Springer
摘要:Endometrioid adenocarcinoma of the uterus and ovarian endometrioid carcinoma share many morphological and molecular features. Differentiation between simultaneous primary carcinomas and ovarian metastases of an endometrial cancer may be very challenging but is essential for progn...

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