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内部出版物
SpringerLink电子期刊(1049)
在“
SpringerLink电子期刊
”中,
命中:
1,049
条,耗时:小于0.01 秒
在所有数据库中总计命中:
1,049
条
1.
PSE-HMM: genome-wide
CNV
detection from NGS data using an HMM with Position-Specific Emission probabilities
作者:
Seyed Amir Malekpour
;
Hamid Pezeshk
;
Mehdi Sadeghi
关键词:
Next Generation Sequencing (NGS)
;
Hidden Markov Models (HMMs)
;
Expectation Maximization (EM) algorithm
;
mixture densities
;
Copy Number Variation (
CNV
)
刊名:BMC Bioinformatics
出版年:2017
2.
DNA copy number profiling in microsatellite-stable and microsatellite-unstable hereditary non-polyposis colorectal cancers by targeted
CNV
array
作者:
Weixiang Chen
;
Jun Ding
;
Long Jiang
;
Zebing Liu…
关键词:
Colorectal cancer
;
Hereditary non
;
polyposis colorectal cancer
;
Microsatellite stable
;
Copy number
;
Loss of heterozygosity
刊名:Functional & Integrative Genomics
出版年:2017
3.
CNV
s into the wild: screening the genomes of conifer trees (
Picea spp.
) reveals fewer gene copy number variations in hybrids and links to adaptation
作者:
Julien Prunier
;
Sébastien Caron
;
John MacKay
关键词:
Copy number variation
;
Comparative genomic hybridization
;
Non
;
model species
;
Genomic structural variation
;
Genome architecture
;
Species hybridization
;
Picea glauca
;
Picea mariana
;
Picea Engelmanni
;
conifers
刊名:BMC Genomics
出版年:2017
4.
Diversity and regulatory impact of copy number variation in the primate
Macaca fascicularis
作者:
Andreas R. Gschwind
;
Anjali Singh
;
Ulrich Certa
;
Alexandre Reymond…
关键词:
Cynomolgus monkey
;
CNV
;
Gene expression
;
eQTL
;
Olfactory receptors
刊名:BMC Genomics
出版年:2017
5.
cnv
Scan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data
作者:
Pubudu Saneth Samarakoon
;
Hanne Sørmo Sorte
;
Asbjørg Stray-Pedersen…
关键词:
CNV
;
Exome
;
Mutation detection
刊名:BMC Genomics
出版年:2016
6.
Association between copy-number variation on metabolic phenotypes and HDL-C levels in patients with polycystic ovary syndrome
作者:
Birgit Knebel
;
Stefan Lehr
;
Onno E. Janssen
;
Susanne Hahn…
关键词:
Polycystic ovary syndrome (PCOS)
;
Metabolic syndrome
;
Copy
;
number variation
;
Droplet digital polymerase chain reaction
;
DdPCR
刊名:Molecular Biology Reports
出版年:2017
7.
Arabidopsis thaliana
population analysis reveals high plasticity of the genomic region spanning
MSH2, AT3G18530
and
AT3G18535
genes and provides evidence for NAHR-driven recurrent
CNV
events occurring in this location
作者:
Agnieszka Zmienko
;
Anna Samelak-Czajka
;
Piotr Kozlowski
;
Maja Szymanska…
关键词:
Copy number variation (
CNV
)
;
Multiallelic
CNV
;
Non
;
allelic homologous recombination (NAHR)
;
Recurrent deletion
;
Multiplex ligation
;
dependent probe amplification (MLPA)
;
Droplet digital PCR
;
Genotyping
;
Arabidopsis thaliana
刊名:BMC Genomics
出版年:2016
8.
Polymorphism and protein expression of MUTYH gene for risk of rheumatoid arthritis
作者:
Shih-Yin Chen
;
Hsin-Han Chen
;
Yu-Chuen Huang…
关键词:
RA
;
MUTYH
;
SNPs
;
CNV
s
;
Oxidative DNA damage. DAS28
刊名:BMC Musculoskeletal Disorders
出版年:2017
9.
Identification of Heterozygous Single- and Multi-exon Deletions in
IL7R
by Whole Exome Sequencing
作者:
Karin R. Engelhardt
;
Yaobo Xu
;
Angela Grainger…
关键词:
IL7R
;
copy number variation
;
compound heterozygous
;
SCID
;
whole exome sequencing
刊名:Journal of Clinical Immunology
出版年:2017
10.
Growth, progression and chromosome instability of Neuroblastoma: a new scenario of tumorigenesis?
作者:
Gian Paolo Tonini
关键词:
Neuroblastoma
;
Chromosome instability
;
Aneuploidy
;
Genome
;
Embryo
;
Neural crest cells
刊名:BMC Cancer
出版年:2017
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