Detailed analysis ofHTT repeat elements in human blood using targeted amplification-free long-read sequencing
暂无分享,去创建一个
[1] A. Ameur,et al. Single-molecule DNA sequencing of acute myeloid leukemia and myelodysplastic syndromes with multiple TP53 alterations , 2018, Haematologica.
[2] David Heckerman,et al. Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes , 2017, American journal of human genetics.
[3] Pall I. Olason,et al. SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population , 2017, European Journal of Human Genetics.
[4] Yuri Pritykin,et al. GuideScan software for improved single and paired CRISPR guide RNA design , 2017, Nature Biotechnology.
[5] K. Devriendt,et al. Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single‐Molecule Sequencing , 2017, Human mutation.
[6] Chris Shaw,et al. Detection of long repeat expansions from PCR-free whole-genome sequence data , 2016, bioRxiv.
[7] J. Korlach,et al. De novo assembly and phasing of a Korean human genome , 2016, Nature.
[8] E. Eichler,et al. Long-read sequencing and de novo assembly of a Chinese genome , 2016, Nature Communications.
[9] J. Keith Joung,et al. 731. High-Fidelity CRISPR-Cas9 Nucleases with No Detectable Genome-Wide Off-Target Effects , 2016 .
[10] J. Vermeesch,et al. Polymerase specific error rates and profiles identified by single molecule sequencing. , 2016, Mutation research.
[11] S. Turner,et al. Single-locus enrichment without amplification for sequencing and direct detection of epigenetic modifications , 2016, Molecular Genetics and Genomics.
[12] J. Lupski,et al. PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations , 2015, BMC Genomics.
[13] Hidemasa Bono,et al. CRISPRdirect: software for designing CRISPR/Cas guide RNA with reduced off-target sites , 2014, Bioinform..
[14] B. Hayward,et al. Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders , 2014, Front. Genet..
[15] M. Boutros,et al. E-CRISP: fast CRISPR target site identification , 2014, Nature Methods.
[16] Tae-Jin Oh,et al. Advantages of Single-Molecule Real-Time Sequencing in High-GC Content Genomes , 2013, PloS one.
[17] Mauricio O. Carneiro,et al. The advantages of SMRT sequencing , 2013, Genome Biology.
[18] J. Keith Joung,et al. High frequency off-target mutagenesis induced by CRISPR-Cas nucleases in human cells , 2013, Nature Biotechnology.
[19] Sarah McCalmon,et al. Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene , 2013, Genome research.
[20] P. Cabello,et al. Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington’s disease , 2012, Journal of Human Genetics.
[21] S. Seneca,et al. EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease , 2012, European Journal of Human Genetics.
[22] P. J. van der Zaag,et al. Targeted enrichment of genomic DNA regions for next-generation sequencing , 2011, Briefings in functional genomics.
[23] C. Richards,et al. Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey , 2011, Genetics in Medicine.
[24] P. Bauer,et al. Discrepancies in reporting the CAG repeat lengths for Huntington's disease , 2011, European Journal of Human Genetics.
[25] S. Turner,et al. A flexible and efficient template format for circular consensus sequencing and SNP detection , 2010, Nucleic acids research.
[26] Tyson A. Clark,et al. Direct detection of DNA methylation during single-molecule, real-time sequencing , 2010, Nature Methods.
[27] Jie Zhang,et al. A novel approach to investigate tissue-specific trinucleotide repeat instability , 2010, BMC Systems Biology.
[28] C. E. Pearson,et al. Repeat instability as the basis for human diseases and as a potential target for therapy , 2010, Nature Reviews Molecular Cell Biology.
[29] J. Taylor,et al. Repeat expansion disease: progress and puzzles in disease pathogenesis , 2010, Nature Reviews Genetics.
[30] K. Frazer,et al. Microdroplet-based PCR amplification for large scale targeted sequencing , 2009, Nature Biotechnology.
[31] Audrey E Hendricks,et al. Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset. , 2009, Human molecular genetics.
[32] J. Maguire,et al. Solution Hybrid Selection with Ultra-long Oligonucleotides for Massively Parallel Targeted Sequencing , 2009, Nature Biotechnology.
[33] H. Zoghbi,et al. Trinucleotide repeat disorders. , 2007, Annual review of neuroscience.
[34] D. Monckton,et al. Inherited CAG.CTG allele length is a major modifier of somatic mutation length variability in Huntington disease. , 2007, DNA repair.
[35] Hanlee P. Ji,et al. Multigene amplification and massively parallel sequencing for cancer mutation discovery , 2007, Proceedings of the National Academy of Sciences.
[36] Elizabeth Evans,et al. Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis. , 2003, Human molecular genetics.
[37] U Landegren,et al. PCR-generated padlock probes detect single nucleotide variation in genomic DNA. , 2000, Nucleic acids research.
[38] P. Kahlem,et al. The expanded CAG repeat associated with juvenile Huntington disease shows a common origin of most or all neurons and glia in human cerebrum , 2000, Neuroscience Letters.
[39] O. Riess,et al. Avoiding errors in the diagnosis of (CAG)n expansion in the huntingtin gene. , 1997, Journal of medical genetics.
[40] Nahida Matta,et al. CAG expansion affects the expression of mutant huntingtin in the Huntington's disease brain , 1995, Neuron.
[41] R. Roos,et al. Somatic expansion of the (CAG)n repeat in Huntington disease brains , 1995, Human Genetics.
[42] M. Hayden,et al. Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm , 1994, Nature Genetics.
[43] Manish S. Shah,et al. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes , 1993, Cell.
[44] S. Turner,et al. Real-time DNA sequencing from single polymerase molecules. , 2010, Methods in enzymology.
[45] T. Prior,et al. Technical Standards and Guidelines for Huntington Disease Testing , 2004, Genetics in Medicine.
[46] M. Hayden,et al. A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. , 1994, Human molecular genetics.