Characterization and Genomic Localization of a SMAD4 Processed Pseudogene
Tài liệu tham khảo
Watson, 2014, Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface, Hum Mutat, 35, 434, 10.1002/humu.22490
Morgan, 2010, Genetic diagnosis of familial breast cancer using clonal sequencing, Hum Mutat, 31, 484, 10.1002/humu.21216
Guo, 2012, Exome sequencing generates high quality data in non-target regions, BMC Genomics, 13, 194, 10.1186/1471-2164-13-194
Bellos, 2014, cnvOffSeq: detecting intergenic copy number variation using off-target exome sequencing data, Bioinformatics, 30, i639, 10.1093/bioinformatics/btu475
Millson, 2015, Processed pseudogene confounding deletion/duplication assays for SMAD4, J Mol Diagn, 17, 576, 10.1016/j.jmoldx.2015.05.005
Martin, 2011, Cutadapt removes adapter sequences from high-throughput sequencing reads, EMBnet.J, 17, 10, 10.14806/ej.17.1.200
Li, 2009, Fast and accurate short read alignment with Burrows-Wheeler transform, Bioinformatics, 25, 1754, 10.1093/bioinformatics/btp324
Mose, 2014, ABRA: improved coding indel detection via assembly-based realignment, Bioinformatics, 30, 2813, 10.1093/bioinformatics/btu376
DePristo, 2011, A framework for variation discovery and genotyping using next-generation DNA sequencing data, Nat Genet, 43, 491, 10.1038/ng.806
Thorvaldsdóttir, 2013, Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration, Brief Bioinform, 14, 178, 10.1093/bib/bbs017
Dobin, 2013, STAR: ultrafast universal RNA-seq aligner, Bioinformatics, 29, 15, 10.1093/bioinformatics/bts635
Li, 2009, The Sequence alignment/map format and SAMtools, Bioinformatics, 25, 2078, 10.1093/bioinformatics/btp352
Koboldt, 2012, VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing, Genome Res, 22, 568, 10.1101/gr.129684.111
Ewing, 2013, Retrotransposition of gene transcripts leads to structural variation in mammalian genomes, Genome Biol, 14, R22, 10.1186/gb-2013-14-3-r22
Schrider, 2013, Gene copy-number polymorphism caused by retrotransposition in humans, PLoS Genet, 9, e1003242, 10.1371/journal.pgen.1003242
Richardson, 2014, Diversity through duplication: whole-genome sequencing reveals novel gene retrocopies in the human population, Bioessays, 36, 475, 10.1002/bies.201300181
de Boer, 2014, Primary immunodeficiency caused by an exonized retroposed gene copy inserted in the CYBB gene, Hum Mutat, 35, 486, 10.1002/humu.22519
Brandt, 2009, SCAI acts as a suppressor of cancer cell invasion through the transcriptional control of beta1-integrin, Nat Cell Biol, 11, 557, 10.1038/ncb1862
Hansen, 2016, SCAI promotes DNA double-strand break repair in distinct chromosomal contexts, Nat Cell Biol, 18, 1357, 10.1038/ncb3436
Lin, 2015, MiR-1228 promotes breast cancer cell growth and metastasis through targeting SCAI protein, Int J Clin Exp Pathol, 8, 6646
De Vos, 2004, Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome, Am J Hum Genet, 74, 954, 10.1086/420796
Goodenberger, 2016, PMS2 monoallelic mutation carriers: the known unknown, Genet Med, 18, 13, 10.1038/gim.2015.27
Kalia, 2017, Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics, Genet Med, 19, 249, 10.1038/gim.2016.190