Discovery of large genomic inversions using long range information
暂无分享,去创建一个
E. Eichler | F. Antonacci | C. Alkan | M. Miroballo | Joyce Tang | C. Amemiya | M. Ventura | Marzieh Eslami Rasekh | G. Chiatante
[1] P. Kwok,et al. A Hybrid Approach for de novo Human Genome Sequence Assembly and Phasing , 2016, Nature Methods.
[2] Evan E. Eichler,et al. Genetic variation and the de novo assembly of human genomes , 2015, Nature Reviews Genetics.
[3] Gabor T. Marth,et al. A global reference for human genetic variation , 2015, Nature.
[4] Gabor T. Marth,et al. An integrated map of structural variation in 2,504 human genomes , 2015, Nature.
[5] Mark Gerstein,et al. VarSim: a high-fidelity simulation and validation framework for high-throughput genome sequencing with cancer applications , 2014, Bioinform..
[6] Andrew C. Adey,et al. In vitro, long-range sequence information for de novo genome assembly via transposase contiguity , 2014, Genome research.
[7] Peter H. Sudmant,et al. Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability , 2014, Nature Genetics.
[8] Sergey A. Shiryev,et al. Single haplotype assembly of the human genome from a hydatidiform mole , 2014, bioRxiv.
[9] Dmitry Pushkarev,et al. Whole-genome haplotyping using long reads and statistical methods , 2014, Nature Biotechnology.
[10] G. Weinstock,et al. TIGRA: A targeted iterative graph routing assembler for breakpoint assembly , 2014, Genome research.
[11] Lorena Pantano,et al. InvFEST, a database integrating information of polymorphic inversions in the human genome , 2013, Nucleic Acids Res..
[12] Heng Li. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM , 2013, 1303.3997.
[13] Onur Mutlu,et al. Accelerating read mapping with FastHASH , 2013, BMC Genomics.
[14] Ryan M. Layer,et al. LUMPY: a probabilistic framework for structural variant discovery , 2012, Genome Biology.
[15] Thomas Zichner,et al. DELLY: structural variant discovery by integrated paired-end and split-read analysis , 2012, Bioinform..
[16] Kenneth K. Kidd,et al. Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism , 2012, Nature Genetics.
[17] Dario Strbenac,et al. Savant Genome Browser 2: visualization and analysis for population-scale genomics , 2012, Nucleic Acids Res..
[18] Alexander Schliep,et al. CLEVER: clique-enumerating variant finder , 2012, Bioinform..
[19] Leping Li,et al. ART: a next-generation sequencing read simulator , 2012, Bioinform..
[20] Benjamin J. Raphael,et al. An integrative probabilistic model for identification of structural variation in sequencing data , 2012, Genome Biology.
[21] Arcadi Navarro,et al. Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee. , 2011, Genome research.
[22] Bradley P. Coe,et al. Genome structural variation discovery and genotyping , 2011, Nature Reviews Genetics.
[23] Yiping Shen,et al. Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. , 2011, American journal of human genetics.
[24] M. DePristo,et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.
[25] Andrew C. Adey,et al. Haplotype-resolved genome sequencing of a Gujarati Indian individual , 2011, Nature Biotechnology.
[26] Kenny Q. Ye,et al. Mapping copy number variation by population scale genome sequencing , 2010, Nature.
[27] Andrew C. Adey,et al. Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition , 2010, Genome Biology.
[28] David C. Schwartz,et al. A large, complex structural polymorphism at 16p12.1 underlies microdeletion disease risk , 2010, Nature Genetics.
[29] Faraz Hach,et al. Next-generation VariationHunter: combinatorial algorithms for transposon insertion discovery , 2010, Bioinform..
[30] M. von Zastrow,et al. Membrane traffic in the post-genomic era , 2010, Genome Biology.
[31] Tomas W. Fitzgerald,et al. Origins and functional impact of copy number variation in the human genome , 2010, Nature.
[32] C. Amemiya,et al. Development and analysis of a germline BAC resource for the sea lamprey, a vertebrate that undergoes substantial chromatin diminution , 2010, Chromosoma.
[33] Aaron R. Quinlan,et al. Bioinformatics Applications Note Genome Analysis Bedtools: a Flexible Suite of Utilities for Comparing Genomic Features , 2022 .
[34] Yong-shu He,et al. [Structural variation in the human genome]. , 2009, Yi chuan = Hereditas.
[35] Paul Medvedev,et al. Computational methods for discovering structural variation with next-generation sequencing , 2009, Nature Methods.
[36] Kenny Q. Ye,et al. Sensitive and accurate detection of copy number variants using read depth of coverage. , 2009, Genome research.
[37] J. Kitzman,et al. Personalized Copy-Number and Segmental Duplication Maps using Next-Generation Sequencing , 2009, Nature Genetics.
[38] Kai Ye,et al. Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads , 2009, Bioinform..
[39] Gonçalo R. Abecasis,et al. The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..
[40] Richard Durbin,et al. Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .
[41] Süleyman Cenk Sahinalp,et al. Combinatorial Algorithms for Structural Variation Detection in High Throughput Sequenced Genomes , 2009, RECOMB.
[42] Zhaoshi Jiang,et al. Characterization of six human disease-associated inversion polymorphisms , 2009, Human molecular genetics.
[43] Zhaoshi Jiang,et al. Evolutionary toggling of the MAPT 17q21.31 inversion region , 2008, Nature Genetics.
[44] Joshua M. Korn,et al. Mapping and sequencing of structural variation from eight human genomes , 2008, Nature.
[45] Mauro Brunato,et al. On Effectively Finding Maximal Quasi-cliques in Graphs , 2008, LION.
[46] Philip M. Kim,et al. Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome , 2007, Science.
[47] D. Conrad,et al. Global variation in copy number in the human genome , 2006, Nature.
[48] R. Pfundt,et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism , 2006, Nature Genetics.
[49] C. Tyler-Smith,et al. Assaying chromosomal inversions by single-molecule haplotyping , 2006, Nature Methods.
[50] Pardis C Sabeti,et al. Common deletion polymorphisms in the human genome , 2006, Nature Genetics.
[51] N. Niikawa,et al. Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions , 2005, Journal of Medical Genetics.
[52] E. Eichler,et al. Fine-scale structural variation of the human genome , 2005, Nature Genetics.
[53] H. Stefánsson,et al. A common inversion under selection in Europeans , 2005, Nature Genetics.
[54] L. Feuk,et al. Detection of large-scale variation in the human genome , 2004, Nature Genetics.
[55] Kenny Q. Ye,et al. Large-Scale Copy Number Polymorphism in the Human Genome , 2004, Science.
[56] Xavier Estivill,et al. Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. , 2003, Human molecular genetics.
[57] Stephen W. Scherer,et al. A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome , 2001, Nature Genetics.
[58] J. Weber,et al. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. , 2001, American journal of human genetics.
[59] Richard M. Karp,et al. Reducibility among combinatorial problems" in complexity of computer computations , 1972 .
[60] Richard M. Karp,et al. Reducibility Among Combinatorial Problems , 1972, 50 Years of Integer Programming.