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CNKI期刊论文0611(3)
在“
SpringerLink电子期刊
”中,
命中:
1,620
条,耗时:0.0179906 秒
在所有数据库中总计命中:
4,744
条
1.
MARV: a tool for genome-wide multi-phenotype analysis of
rare
variants
作者:
Marika Kaakinen
;
Reedik Mägi
;
Krista Fischer
;
Jani Heikkinen…
关键词:
Rare
variant analysis
;
Multi
;
phenotype analysis
;
High
;
dimensional data
刊名:BMC Bioinformatics
出版年:2017
2.
Association of common and
rare
variants
of
SCN10A
gene with sudden unexplained nocturnal death syndrome in Chinese Han population
作者:
Liyong Zhang
;
Feng Zhou
;
Lei Huang
;
Qiuping Wu…
关键词:
Sudden unexplained nocturnal death syndrome (SUNDS)
;
Brugada syndrome
;
SCN10A gene
刊名:International Journal of Legal Medicine
出版年:2017
3.
PreMeta: a tool to facilitate meta-analysis of
rare
-variant associations
作者:
Zheng-Zheng Tang
;
Paul Bunn
;
Ran Tao
;
Zhouwen Liu
;
Dan-Yu Lin
关键词:
MASS
;
MetaSKAT
;
RARE
METAL
;
seqMeta
;
Summary statistics
;
Gene
;
based association tests
刊名:BMC Genomics
出版年:2017
4.
Molecular modeling in the age of clinical genomics, the enterprise of the next generation
作者:
Jeremy W. Prokop
;
Jozef Lazar
;
Gabrielle Crapitto…
关键词:
XIAP
;
Caspase3
;
SMAC
;
RIPK2
;
Clinical
variants
;
Protein modeling
;
Undiagnosed and
rare
diseases
刊名:Journal of Molecular Modeling
出版年:2017
5.
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing
作者:
Iris E. Jansen
;
Hui Ye
;
Sasja Heetveld
;
Marie C. Lechler
;
Helen Michels…
关键词:
Parkinson’s disease
;
Genomics
;
Whole
;
exome sequencing
;
Loss
;
of
;
function
;
Rare
variants
;
Functional screening
;
Mitochondria
;
Parkin
α ;
synuclein
;
Animal model
刊名:Genome Biology
出版年:2017
6.
Expression of
VEGF
111
and other VEGF-A
variants
in the rat uterus is correlated with stage of pregnancy
作者:
Camilla M. Whittington
;
Kevin Danastas…
关键词:
Angiogenesis
;
Implantation
;
Pregnancy
;
Uterus
;
Vascular endothelial growth factor
;
Viviparity
刊名:Journal of Comparative Physiology B
出版年:2017
7.
Variational inference for
rare
variant detection in deep, heterogeneous next-generation sequencing data
作者:
Fan Zhang
;
Patrick Flaherty
关键词:
Single nucleotide variant detection
;
Next
;
generation sequencing
;
Bayesian statistical method
;
Variational inference
刊名:BMC Bioinformatics
出版年:2017
8.
Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence
variants
作者:
Gabriella Esposito
;
Francesco Testa
;
Miriam Zacchia…
关键词:
Bardet
;
Biedl syndrome
;
BBS1
;
BBS2 and BBS10 gene
variants
;
Ciliopathy
;
Renal
;
ocular and audiovestibular phenotype
刊名:BMC Medical Genetics
出版年:2017
9.
Diversities of H-type anorectal malformation: a systematic review on a
rare
variant of the Krickenbeck classification
作者:
Shilpa Sharma
;
Devendra K. Gupta
关键词:H ;
type ARM
;
Anorectal malformation
H ;
type fistula
刊名:Pediatric Surgery International
出版年:2017
10.
Detecting very low allele fraction
variants
using targeted DNA sequencing and a novel molecular barcode-aware variant caller
作者:
Chang Xu
;
Mohammad R. Nezami Ranjbar
;
Zhong Wu
;
John DiCarlo
;
Yexun Wang
关键词:
Variant caller
;
Molecular barcode
;
Statistical model
;
PCR enrichment
刊名:BMC Genomics
出版年:2017
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