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1.Neurology Individualized Medicine: When to Use Next-Generation Sequencing Panels

作者：Christopher J. Klein ; MD^a ; ^{klein.christopher@mayo.edu} ; Tatiana M. Foroud ; PhD^b

关键词：ACMG ; American College of Medical Genetics and Genomics ; bp ; base pair ; CNV ; copy number variation ; HGMD ; Human Gene Mutation Database ; NGS ; next-generation sequencing ; OMIM ; Online Mendelian Inheritance in Man ; WES ; whole-exome sequencing ; WGS ; whole-genome sequencing

刊名：Mayo Clinic Proceedings

出版年：2017

2.Application of next generation sequencing in clinical microbiology and infection prevention

作者：Ruud H. Deurenberg^a ; Erik Bathoorn^a ; ¹ ; Monika A. Chlebowicz^a ; ¹ ; Natacha Couto^a ; ¹ ; Mithila Ferdous^a ; ¹ ; Silvia Garcí ; a-Cobos^a ; ¹ ; Anna M.D. Kooistra-Smid^a ; ^b ; ¹ ; Erwin C. Raangs^a ; ¹ ; Sigrid Rosema^a ; ¹ ; Alida C.M. Veloo^a ; ¹ ; Kai Zhou^c ; ¹ ; Alexander W. Friedrich^a ; John W.A. Rossen^a ; ^{j.w.a.rossen@rug.nl}

关键词：Infection prevention ; Ion PGM&trade ; Clinical microbiology ; MiSeq ; Next generation sequencing ; Whole genome sequencing

刊名：Journal of Biotechnology

出版年：2017

3.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

4.Whole-Genome Sequencing in Healthy People

作者：Noralane M. Lindor ; MD^a ; ^{nlindor@mayo.edu} ; Stephen N. Thibodeau ; PhD^b ; Wylie Burke ; MD ; PhD^c

关键词：ACMGG ; American College of Medical Genetics and Genomics ; EMR ; electronic medical record ; GWAS ; genome-wide association study ; HGP ; Human Genome Project ; SNP ; single-nucleotide polymorphism ; WES ; whole-exome sequencing ; WGS ; whole-genome sequencing ; VUS ; variant of unknown significance

刊名：Mayo Clinic Proceedings

出版年：2017

5.Spectrum of mutations in leiomyosarcomas identified by clinical targeted next-generation sequencing

作者：Paul J Lee^a ; ¹ ; Naomi S. Yoo^a ; ¹ ; Ian S. Hagemann^a ; John D Pfeifer^a ; Catherine E Cottrell^a ; ² ; Haley J Abel^b ; Eric J Duncavage^a ; ^{EDuncavage@path.wustl.edu}

关键词：Leiomyosarcoma ; Molecular diagnostics ; Deep sequencing ; DNA mutational analysis ; Copy number alterations ; DNA sequencing ; Single nucleotide variant

刊名：Experimental and Molecular Pathology

出版年：2017

6.Identification of bacterial pathogens from formalin-fixed, paraffin-embedded tissues by using 16S sequencing: retrospective correlation of results to clinicians' responses

作者：Lori D. Racsa ; DO^a ; ¹ ; ^{Ldracsa@gmail.com} ; Marlene DeLeon-Carnes ; BS^b ; ^mld7@cdc.gov ; Matthew Hiskey ; MD^a ; ^{matthew.hiskey@emory.edu} ; Jeannette Guarner ; MD^a ; ^{jguarne@emory.edu}

关键词：16S ; Bacterial sequencing ; Paraffin samples ; Bacteria ; Infection

刊名：Human Pathology

出版年：2017

7.FDSTools: A software package for analysis of massively parallel sequencing data with the ability to recognise and correct STR stutter and other PCR or sequencing noise

作者：Jerry Hoogenboom^a ; ^b ; ¹ ; ^{j.hoogenboom@nfi.minvenj.nl} ; Kristiaan J. van der Gaag^a ; ^b ; ¹ ; ^{k.van.der.gaag@nfi.minvenj.nl} ; Rick H. de Leeuw^a ; ^{r.h.de_leeuw@lumc.nl} ; Titia Sijen^b ; ^{t.sijen@nfi.minvenj.nl} ; Peter de Knijff^a ; ^{p.de_knijff@lumc.nl} ; Jeroen F.J. Laros^a ; ^{j.f.j.laros@lumc.nl}

关键词：Forensic science ; Next generation sequencing ; Massively parallel sequencing ; Short tandem repeat ; Powerseq ; FDSTools ; Software

刊名：Forensic Science International: Genetics

出版年：2017

8.SEQ Mapper: A DNA sequence searching tool for massively parallel sequencing data

作者：James Chun-I Lee^a ; ^{jimlee@ntu.edu.tw} ; ^{jimlee108@gmail.com} ; Bill Tseng^a ; Liang-Kai Chang^b ; ^{steven.chang@llsc.com.tw} ; Adrian Linacre^c ; ^{adrian.linacre@flinders.edu.au}

关键词：STR ; SNP ; Bioinformatics ; Massively parallel sequencing ; Next generation sequencing ; Forensic science

刊名：Forensic Science International: Genetics

出版年：2017

9.Test of Small RNA Sequencing Repeatability in Rice

作者：Sun Hong-zheng ; Peng Ting ; Zhang Jing ; Li Jun-zhou ; Du Yan-xiu ; ^{dumatt@163.com} ; Zhao Quan-zhi ; ^{qzzhaoh@126.com}

关键词：rice ; deep sequencing ; small RNA ; differential expression ; random drift

刊名：Rice Science

出版年：2017

10.The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease

作者：Gillian M. Blue^a ; ^b ; ^c ; ¹ ; David Humphreys^d ; ^g ; ¹ ; Justin Szot^d ; ^h ; ¹ ; Joelene Major^d ; ¹ ; Gavin Chapman^d ; ^g ; ¹ ; Alexis Bosman^d ; ¹ ; Edwin P. Kirk^e ; ^f ; ¹ ; Gary F. Sholler^b ; ^c ; ¹ ; Richard P. Harvey^d ; ^g ; ^h ; ¹ ; Sally L. Dunwoodie^d ; ^g ; ^h ; ¹ ; David S. Winlaw^a ; ^b ; ^c ; ¹ ; ^{david.winlaw@health.nsw.gov.au}

关键词：Congenital heart disease ; Atrial septal defect ; Exome sequencing ; Functional genomics

刊名：International Journal of Cardiology

出版年：2017

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