Guo Y, Long J, He J, Li CI, Cai Q, Shu XO, Zheng W, Li C (2012) Exome sequencing generates high quality data in non-target regions. BMC Genomics 13:194. https://doi.org/10.1186/1471-2164-13-194
Article CAS PubMed PubMed Central Google Scholar
Hu H, Liu X, Jin W, Ropers H, Wienker H, T. F (2015) Evaluating information content of SNPs for sample-tagging in re-sequencing projects. Sci Rep 5:10247. https://doi.org/10.1038/srep10247
Article CAS PubMed PubMed Central Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) 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. Genet Med 17:405–424. https://doi.org/10.1038/gim.2015.30
Article PubMed PubMed Central Google Scholar
Moretti TR, Moreno LI, Smerick JB, Pignone ML, Hizon R, Buckleton JS, Bright JA, Onorato AJ (2016) Population data on the expanded CODIS core STR loci for eleven populations of significance for forensic DNA analyses in the United States. Forensic Sci Int Genet 25:175–181. https://doi.org/10.1016/j.fsigen.2016.07.022
Article CAS PubMed Google Scholar
Pengelly RJ, Gibson J, Andreoletti G, Collins A, Mattocks CJ, Ennis S (2013) A SNP profiling panel for sample tracking in whole-exome sequencing studies. Genome Med 5:89. https://doi.org/10.1186/gm492
Article CAS PubMed PubMed Central Google Scholar
Helsmoortel C, Kooy RF, Vandeweyer G (2016) Multiplexed high Resolution Melting Assay for Versatile Sample Tracking in a diagnostic and research setting. J Mol Diagn 18:32–38. https://doi.org/10.1016/j.jmoldx.2015.06.011
Article CAS PubMed Google Scholar
Du Y, Martin JS, McGee J, Yang Y, Liu EY, Sun Y, Geihs M, Kong X, Zhou EL, Li Y, Huang J (2017) A SNP panel and online tool for checking genotype concordance through comparing QR codes. PLoS ONE 12:e0182438. https://doi.org/10.1371/journal.pone.0182438
Article CAS PubMed PubMed Central Google Scholar
Lee S, Lee S, Ouellette S, Park WY, Lee EA, Park PJ (2017) NGSCheckMate: software for validating sample identity in next-generation sequencing studies within and across data types. Nucleic Acids Res 45:e103. https://doi.org/10.1093/nar/gkx193
Article CAS PubMed PubMed Central Google Scholar
Westphal M, Frankhouser D, Sonzone C, Shields PG, Yan P, Bundschuh R (2019) SMaSH: sample matching using SNPs in humans. BMC Genomics 20:1001. https://doi.org/10.1186/s12864-019-6332-7
Article PubMed PubMed Central Google Scholar
Chun H, Kim S (2019) BAMixChecker: an automated checkup tool for matched sample pairs in NGS cohort. Bioinformatics 35:4806–4808. https://doi.org/10.1093/bioinformatics/btz479
Article CAS PubMed PubMed Central Google Scholar
Javed N, Farjoun Y, Fennell TJ, Epstein CB, Bernstein BE, Shoresh N (2020) Detecting sample swaps in diverse NGS data types using linkage disequilibrium. Nat Commun 11:3697. https://doi.org/10.1038/s41467-020-17453-5
Article CAS PubMed PubMed Central Google Scholar
A, K. K. K., A, A. J. P., A, W. C. S., B, R. L., B, J. C., B, S. W., B, N. I. (2013) Microhaplotype loci are a powerful new type of forensic marker. Forensic Sci International: Genet Supplement Ser 4: e123–e124
Kidd KK, Speed WC, Pakstis AJ, Podini DS, Lagacé R, Chang J, Wootton S, Haigh E, Soundararajan U (2017) Evaluating 130 microhaplotypes across a global set of 83 populations. Forensic Sci Int Genet 29:29–37. https://doi.org/10.1016/j.fsigen.2017.03.014
Article CAS PubMed Google Scholar
Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy KW, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G, Zhang F (2015) TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med 372:341–350. https://doi.org/10.1056/NEJMoa1406829
Article CAS PubMed PubMed Central Google Scholar
Rajeevan H, Osier MV, Cheung KH, Deng H, Druskin L, Heinzen R, Kidd JR, Stein S, Pakstis AJ, Tosches NP, Yeh CC, Miller PL, Kidd KK (2003) ALFRED: the ALelle FREquency database. Update. Nucleic Acids Res 31:270–271. https://doi.org/10.1093/nar/gkg043
Article CAS PubMed PubMed Central Google Scholar
Standage DS, Mitchell RN (2020) MicroHapDB: a portable and extensible database of all published microhaplotype marker and frequency data. Front Genet 11:781. https://doi.org/10.3389/fgene.2020.00781
Article CAS PubMed PubMed Central Google Scholar
Gouy A, Zieger M (2017) STRAF-A convenient online tool for STR data evaluation in forensic genetics. Forensic Sci Int Genet 30:148–151. https://doi.org/10.1016/j.fsigen.2017.07.007
Article CAS PubMed Google Scholar
Kling D, Tillmar AO, Egeland T (2014) Familias 3 - extensions and new functionality. Forensic Sci Int Genet 13:121–127. https://doi.org/10.1016/j.fsigen.2014.07.004
Article CAS PubMed Google Scholar
Rosenberg NA, Li LM, Ward R, Pritchard JK (2003) Informativeness of genetic markers for inference of ancestry. Am J Hum Genet 73:1402–1422. https://doi.org/10.1086/380416
Article CAS PubMed PubMed Central Google Scholar
Rosenberg NA (2005) Algorithms for selecting informative marker panels for population assignment. J Comput Biol 12:1183–1201. https://doi.org/10.1089/cmb.2005.12.1183
Article CAS PubMed Google Scholar
Pritchard JK, Stephens M, Donnelly P (2000) Inference of population structure using multilocus genotype data. Genetics 155(2):945–959. https://doi.org/10.1093/genetics/155.2.945
Article CAS PubMed PubMed Central Google Scholar
Jakobsson M, Rosenberg NA (2007) CLUMPP: a cluster matching and permutation program for dealing with label switching and multimodality in analysis of population structure. Bioinformatics 23:1801–1806. https://doi.org/10.1093/bioinformatics/btm233
Article CAS PubMed Google Scholar
Rosenberg NA (2004) distruct: a program for the graphical display of population structure. Mol. Ecol. Notes: 137–138
Kun TJ, Wictum EJ, Penedo MCT (2018) A mini-STR typing system for degraded equine DNA. Anim Genet 49:464–466. https://doi.org/10.1111/age.12716
Article CAS PubMed Google Scholar
Kidd KK, Pakstis AJ (2022) State of the art for Microhaplotypes. Genes (Basel) 13:1322. https://doi.org/10.3390/genes13081322
Article CAS PubMed Google Scholar
Kidd KK, Speed WC (2015) Criteria for selecting microhaplotypes: mixture detection and deconvolution. Investig Genet 6:1. https://doi.org/10.1186/s13323-014-0018-3
Article CAS PubMed PubMed Central Google Scholar
Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, Wainscoat JS (1997) Presence of fetal DNA in maternal plasma and serum. Lancet 350:485–487. https://doi.org/10.1016/s0140-6736(97)02174-0
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