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Springer电子图书(2)
CNKI会议论文(7)
CNKI学位论文(9403)
CNKI期刊论文0611(17)
知网期刊论文(5946)
在“
SpringerLink电子期刊
”中,
命中:
2,105
条,耗时:0.0139933 秒
在所有数据库中总计命中:
15,375
条
1.
Whole-genome sequence-based
genomic
prediction in laying chickens with different
genomic
relationship matrices to account for genetic architecture
作者:
Guiyan Ni
;
David Cavero
;
Anna Fangmann
;
Malena Erbe…
刊名:Genetics Selection Evolution
出版年:2017
2.
MC-GenomeKey: a multicloud system for the detection and annotation of
genomic
variants
作者:
Hatem Elshazly
;
Yassine Souilmi
;
Peter J. Tonellato
;
Dennis P. Wall…
关键词:
Variant analysis
;
Cloud computing
;
Multicloud
;
Sequence analysis
;
Personalized medicine
刊名:BMC Bioinformatics
出版年:2017
3.
Human disease
genomic
s: from
variants
to biology
作者:
Mark I. McCarthy
;
Daniel G. MacArthur
刊名:Genome Biology
出版年:2017
4.
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
;
Genomic
s
;
Whole
;
exome sequencing
;
Loss
;
of
;
function
;
Rare
variants
;
Functional screening
;
Mitochondria
;
Parkin
α ;
synuclein
;
Animal model
刊名:Genome Biology
出版年:2017
5.
Atlas of human diseases influenced by genetic
variants
with extreme allele frequency differences
作者:
Arvis Sulovari
;
Yolanda H. Chen
;
James J. Hudziak
;
Dawei Li
刊名:Human Genetics
出版年:2017
6.
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic
variants
作者:
Ronak Y. Patel
;
Neethu Shah
;
Andrew R. Jackson
;
Rajarshi Ghosh…
关键词:
Genome sequencing
;
Exome sequencing
;
Clinical genome sequencing
;
Clinical exome sequencing
;
ACMG guidelines
;
ClinVar
;
ClinGen
;
Clinical Genome Resource
;
Knowledge commons
;
Data commons
;
Data sharing
;
Linked Data
;
Big Data
刊名:Genome Medicine
出版年:2017
7.
A variant by any name: quantifying annotation discordance across tools and clinical databases
作者:
Jennifer L. Yen
;
Sarah Garcia
;
Aldrin Montana
;
Jason Harris…
关键词:
HGVS
;
Clinical testing
;
Genomic
s
;
Annotation
;
Sequencing
;
Syntax
;
Precision medicine
;
Variant
刊名:Genome Medicine
出版年:2017
8.
GBS-based single dosage markers for linkage and QTL mapping allow gene mining for yield-related traits in sugarcane
作者:
Thiago Willian Almeida Balsalobre
;
Guilherme da Silva Pereira…
关键词:
Saccharum spp
;
Polyploidy
;
SNPs
;
Molecular markers
;
Allelic dosage
;
Quantitative traits
刊名:BMC
Genomic
s
出版年:2017
9.
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
10.
First description of mutational analysis of
MLH1, MSH2
and
MSH6
in Algerian families with suspected Lynch syndrome
作者:
H. Ziada-Bouchaar
;
K. Sifi
;
T. Filali
;
T. Hammada
;
D. Satta
;
N. Abadi
关键词:
Algerian families
;
Hereditary non
;
polyposis colorectal cancer
;
Lynch syndrome
;
MLH1
;
MMR genes
刊名:Familial Cancer
出版年:2017
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