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在“Elsevier电子期刊”中，命中：24条，耗时：小于0.01 秒

1.Status and future perspectives of single nucleotide polymorphisms (SNPs) markers in farmed fishes: Way ahead using next generation sequencing

作者：Kiran Dashrath Rasal^a ; ^{kirancife@gmail.com} ; ^{Kiran.Rasal@icar.gov.in} ; Vemlawada Chakrapani^a ; Amrendra Kumar Pandey^a ; Avinash Rambhau Rasal^a ; Jitendra K. Sundaray^a ; Arun Ninawe^b ; Pallipuram Jayasankar^a

关键词：SNP ; single nucleotide polymorphism ; QTL ; quantitative trait loci ; NGS ; next generation sequencing ; ESTs ; expressed sequence tags ; GATK ; Genome Analysis Toolkit ; SSCP ; single strand conformation polymorphism ; GBS ; Genotyping-by-sequencing ; SIFT ; Sorting Intolerant from Tolerant ; nsSNPs ; non-synonymous single nucleotide polymorphisms ; AASs ; amino acid substitutions ; PROVEAN ; Protein Variation Effect Analyzer ; PDB ; Protein Data Bank

刊名：Gene Reports

出版年：2017

2.A cost-effective approach to improving performance of big genomic data analyses in clouds

作者：Christopher Smowton^a ; ^{christopher.smowton@cruk.manchester.ac.uk" class="auth_mail" title="E-mail the corresponding author}Author Vitae ; Andoena Balla^b ; ^{andoena@cs.ucy.ac.cy" class="auth_mail" title="E-mail the corresponding author}Author Vitae ; Demetris Antoniades^b ; ^{danton@cs.ucy.ac.cy" class="auth_mail" title="E-mail the corresponding author}Author Vitae ; Crispin Miller^a ; ^{crispin.miller@cruk.manchester.ac.uk" class="auth_mail" title="E-mail the corresponding author}Author Vitae ; George Pallis^b ; ^{gpallis@cs.ucy.ac.cy" class="auth_mail" title="E-mail the corresponding author}Author Vitae ; Marios D. Dikaiakos^b ; ^{mdd@cs.ucy.ac.cy" class="auth_mail" title="E-mail the corresponding author}Author Vitae ; Wei Xing^a ; ^{Wei.Xing@manchester.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; ^{wei.xing@cruk.manchester.ac.uk" class="auth_mail" title="E-mail the corresponding author}Author Vitae

关键词：Big data ; Clouds ; Performance

刊名：Future Generation Computer Systems

出版年：2017

3.Standardization and quality management in next-generation sequencing

作者：Christoph Endrullat ^{christoph.endrullat@th-wildau.de" class="auth_mail" title="E-mail the corresponding author} ; Jö ; rn Glö ; kler ^{gloekler@th-wildau.de" class="auth_mail" title="E-mail the corresponding author} ; Philipp Franke ^{pfranke@th-wildau.de" class="auth_mail" title="E-mail the corresponding author} ; Marcus Frohme ; ^{marcus.frohme@th-wildau.de" class="auth_mail" title="E-mail the corresponding author}

关键词：ABRF ; Association of Biomolecular Resource Facilities ; BAM ; binary alignment/map ; CAP ; College of American Pathologist's ; CEN ; European Committee for Standardization ; CLIA ; Clinical Laboratory Improvement Amendments ; ddPCR ; digital droplet PCR ; ERCC ; External RNA Controls Consortium ; FDA ; Food and Drug Administration ; FFPE ; formalin-fixed ; paraffin-embedded ; FMEA ; failure mode and effects analysis ; GATK ; genome analysis toolkit ; GSC ; Genomic Standards Consortium ; HGP ; Human Genome Project ; Indel

刊名：Applied & Translational Genomics

出版年：2016

4.Variation of 46 Innate Immune Genes Evaluated for their Contribution in Pneumococcal Meningitis Susceptibility and Outcome

作者：Bart Ferwerda^a ; Mercedes Valls Seró ; n^a ; Aldo Jongejan^b ; Aeilko H. Zwinderman^c ; Madelijn Geldhoff^a ; Arie van der Ende^d ; ^e ; Frank Baas^f ; Matthijs C. Brouwer^a ; Diederik van de Beek^a ; ^{D.vandeBeek@amc.uva.nl" class="auth_mail" title="E-mail the corresponding author}

关键词：CSF ; cerebrospinal fluid ; FDR ; False Discovery Rate ; GATK ; genome analysis tool kit ; GOS ; Glasgow Outcome Scale ; HWE ; Hardy&ndash ; Weinberg equilibrium ; IPD ; invasive pneumococcal disease ; LTA ; lipoteichoic acid ; MAF ; minor allele frequency ; MDS ; multidimensional scaling ; NLRs ; NOD-like receptors ; NRLBM ; Netherlands Reference Laboratories For Bacterial Meningitis ; OR ; odds ratio ; PAMPS ; pathogen-associated molecular pattern molecules ; PCR ; polymerase chain reaction ; RVIS ; residual variation intol

刊名：EBioMedicine

出版年：2016

5.A novel mutation of GATA4 (K300T) associated with familial atrial septal defect

作者：Jia Chen^b ; ¹ ; ^{chenjia@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Bingyang Qi^a ; ¹ ; ^{qiby14@mails.jlu.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Juan Zhao^b ; ^{zhaojuan@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Wei Liu^b ; ^{liuwei_nv@126.com" class="auth_mail" title="E-mail the corresponding author} ; Ranhui Duan^b ; ^{duanranhui@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Mingqiu Zhang^a ; ^{zhangmingqiu62@126.com" class="auth_mail" title="E-mail the corresponding author}

关键词：CHD ; congenital heart diseases ; ToF ; tetralogy of Fallot ; ASD ; atrial septal defect ; VSD ; ventricular septal defect ; AVSD ; atrioventricular septal defect ; DCM ; dilated cardiomyopathy ; HGMD ; human gene mutation database ; dbSNP ; database of Single Nucleotide Polymorphisms ; EVSD ; Exome Variant Server Database ; NLS ; nuclear localization signal ; SNP ; Single nucleotide polymorphism ; GATK ; Genome Analysis Toolkit ; PolyPhen-2 ; Polymorphism Phenotyping v2 ; SIFT ; Sorting Intolerant From Tolerant ; TAD ; tra

刊名：Gene

出版年：2016

6.GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing

作者：Hao Peng^a ; Xiaojuan Xu^b ; ^{xiaojuanyanwu@163.com" class="auth_mail" title="E-mail the corresponding author} ; Lusi Zhang^c ; Xuehong Zhang^b ; Hexiang Peng^a ; Yu Zheng^a ; Sanchuan Luo^a ; Hui Guo^a ; Kun Xia^a ; Jiada Li^a ; Hongliang Yao^d ; Zhengmao Hu^a ; ^{huzhengmao@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author}

关键词：FD ; Fabry disease ; XCI ; X-chromosome inactivation ; α-Gal A ; α-galactosidase A ; CGN ; chronic glomerulonephritis ; SNVs ; Single nucleotide variants ; GATK ; Genome Analysis Toolkit ; LCLs ; lymphoblastoid cell lines

刊名：Gene

出版年：2016

7.Loss of Coolant Accident in Pressurized Water Reactor. Prediction of a 6-inch Cold Leg Break with Relap5 and Cathare 2

作者：Michał Pawluczyk ; Piotr Mazgaj ; Sebastian Gurgacz ; Michał Gatkowski ; Piotr Darnowski ; ^{michal.pawluczyk@itc.pw.edu.pl" class="auth_mail" title="E-mail the corresponding author}

关键词：RELAP5 ; CATHARE2 ; PWR ; IB-LOCA ; Nuclear Safety

刊名：Procedia Engineering

出版年：2016

8.Development of One-way-coupling Methodology between Severe Accident Integral Code MELCOR and Monte Carlo Neutron Transport Code SERPENT

作者：Piotr Darnowski ; ^{piotr.darnowski@itc.pw.edu.pl" class="auth_mail" title="E-mail the corresponding author} ; Kacper Potapczyk ; Michał Gatkowski ; Grzegorz Niewiński

关键词：Severe Accident ; Recriticality ; Monte Carlo ; MELCOR ; SERPENT ; SARCAM

刊名：Procedia Engineering

出版年：2016

9.SNP-Seek II: A resource for allele mining and analysis of big genomic data in Oryza sativa

作者：Locedie Mansueto^a ; Roven Rommel Fuentes^a ; Dmytro Chebotarov^a ; Frances Nikki Borja^a ; Jeffrey Detras^a ; Juan Miguel Abriol-Santos^a ; Kevin Palis^a ; ^b ; Alexandre Poliakov^c ; ^d ; Inna Dubchak^c ; ^d ; Victor Solovyev^e ; Ruaraidh Sackville Hamilton^a ; Kenneth L. McNally^a ; Nickolai Alexandrov^a ; Ramil Mauleon^a ; ^{r.mauleon@irri.org}

关键词：3k RG ; 3000 Rice Genomes ; API ; Application Programming Interface ; DAO ; Data Access Object ; HDF5 ; Hierarchical Data Format 5 (file format) ; HDRA ; High Density Rice Array ; indel ; insertion or deletion in genomic region ; IRGCIS ; International Rice Genebank Collection Information System (http ; //www.irgcis.irri.org ; 81/grc/irgcishome.html) ; IRRI ; International Rice Research Institute ; RDBMS ; Relational Database Management System ; SNP ; Single Nucleotide Polymorphism

刊名：Current Plant Biology

出版年：2016

10.Mining the transcriptomes of four commercially important shellfish species for single nucleotide polymorphisms within biomineralization genes

作者：David L.J. Vendrami^a ; ^{david.vendrami@student.unife.it" class="auth_mail" title="E-mail the corresponding author}Author Vitae ; Abhijeet Shah^aAuthor Vitae ; Luca Telesca^bAuthor Vitae ; Joseph I. Hoffman^aAuthor Vitae

关键词：Crassostrea gigas ; Mya truncata ; Mytilus edulis ; Pecten maximus ; Non-model organism

刊名：Marine Genomics

出版年：2016

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