Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Ming Zhang | Lorne Zinman | Sandra E. Black | Mahdi Ghani | John F. Robinson | Morris Freedman | Michael J. Strong | Allison A. Dilliott | Dennis E. Bulman | Robert A. Hegele | Mario Masellis | Sali M.K. Farhan | Christine Sato | Eric Liang | Adam D. McIntyre | Henian Cao | Lemuel Racacho | Ekaterina Rogaeva | Anthony Lang | Carmela Tartaglia | Elizabeth Finger | John Turnbull | Rick Swartz | M. Freedman | S. Black | A. Lang | R. Hegele | E. Rogaeva | M. Masellis | E. Finger | S. Farhan | M. Ghani | C. Sato | E. Liang | Ming Zhang | A. McIntyre | H. Cao | L. Racacho | M. Strong | D. Bulman | C. Tartaglia | L. Zinman | J. Turnbull | Rick Swartz | S. Black | A. Dilliott | Mahdi Ghani
[1] F. Sanger,et al. DNA sequencing with chain-terminating inhibitors. , 1977, Proceedings of the National Academy of Sciences of the United States of America.
[2] M. Canesi,et al. The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson’s disease and originates from a common ancestor , 2005, Journal of Medical Genetics.
[3] L. Racacho,et al. Translated mutation in the Nurr1 gene as a cause for Parkinson's disease , 2006, Movement disorders : official journal of the Movement Disorder Society.
[4] Zhanjiang Liu. DNA Sequencing Technologies , 2007 .
[5] D. Blacker,et al. Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database , 2007, Nature Genetics.
[6] Hanlee P. Ji,et al. Next-generation DNA sequencing , 2008, Nature Biotechnology.
[7] Xinglong Wang,et al. The Roc domain of leucine‐rich repeat kinase 2 is sufficient for interaction with microtubules , 2008, Journal of neuroscience research.
[8] E. Mardis. Next-generation DNA sequencing methods. , 2008, Annual review of genomics and human genetics.
[9] I. Tikhonova,et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing , 2009, Proceedings of the National Academy of Sciences.
[10] C. Béroud,et al. Human Splicing Finder: an online bioinformatics tool to predict splicing signals , 2009, Nucleic acids research.
[11] S. Henikoff,et al. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.
[12] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[13] M. Metzker. Sequencing technologies — the next generation , 2010, Nature Reviews Genetics.
[14] H. Hakonarson,et al. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.
[15] Maria Teresa Dell'Anno,et al. Direct generation of functional dopaminergic neurons from mouse and human fibroblasts , 2011, Nature.
[16] S. Salzberg,et al. Repetitive DNA and next-generation sequencing: computational challenges and solutions , 2011, Nature Reviews Genetics.
[17] Mauricio O. Carneiro,et al. From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline , 2013, Current protocols in bioinformatics.
[18] Sara El-Metwally,et al. Next-Generation Sequence Assembly: Four Stages of Data Processing and Computational Challenges , 2013, PLoS Comput. Biol..
[19] F. Collins,et al. First FDA authorization for next-generation sequencer. , 2013, The New England journal of medicine.
[20] J. Shendure,et al. A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.
[21] R. Hegele,et al. Exome Sequencing: New Insights into Lipoprotein Disorders , 2014, Current Cardiology Reports.
[22] Minghong Ward,et al. The Database of Short Genetic Variation (dbSNP) , 2014 .
[23] B. Frey,et al. The human splicing code reveals new insights into the genetic determinants of disease , 2015, Science.
[24] Gabor T. Marth,et al. A global reference for human genetic variation , 2015, Nature.
[25] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[26] Wen J. Li,et al. Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation , 2015, Nucleic Acids Res..
[27] Joonhong Park,et al. Characterization of sequence-specific errors in various next-generation sequencing systems. , 2016, Molecular bioSystems.
[28] John F. Robinson,et al. The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration , 2016, npj Genomic Medicine.
[29] Lorne Zinman,et al. The Ontario Neurodegenerative Disease Research Initiative (ONDRI) , 2016, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.
[30] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[31] Ricardo Villamarín-Salomón,et al. ClinVar: public archive of interpretations of clinically relevant variants , 2015, Nucleic Acids Res..
[32] Perry G. Ridge,et al. Evaluating the necessity of PCR duplicate removal from next-generation sequencing data and a comparison of approaches , 2016, BMC Bioinformatics.
[33] E. Mardis. DNA sequencing technologies: 2006–2016 , 2017, Nature Protocols.
[34] Sepp Hochreiter,et al. panelcn.MOPS: Copy‐number detection in targeted NGS panel data for clinical diagnostics , 2017, Human mutation.
[35] B. Thyagarajan,et al. Review of Clinical Next-Generation Sequencing. , 2017, Archives of pathology & laboratory medicine.
[36] High-frequency, low-coverage “false positives” mutations may be true in GS Junior sequencing studies , 2017, Scientific Reports.
[37] Quan Li,et al. InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. , 2017, American journal of human genetics.