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Volumn 18, Issue , 2015, Pages 131-139

Mitochondrial DNA heteroplasmy in the emerging field of massively parallel sequencing

Author keywords

Errors; Heteroplasmy; Massively parallel sequencing; mtDNA; mtGenome

Indexed keywords

MITOCHONDRIAL DNA;

EID: 84939573239     PISSN: 18724973     EISSN: 18780326     Source Type: Journal    
DOI: 10.1016/j.fsigen.2015.05.003     Document Type: Article
Times cited : (123)

References (88)
  • 1
    • 0023762872 scopus 로고
    • Mitochondrial DNA molecules and virtual number of mitochondria per cell in mammalian cells
    • E.D. Robin, and R. Wong Mitochondrial DNA molecules and virtual number of mitochondria per cell in mammalian cells J. Cell. Physiol. 136 1988 507 513
    • (1988) J. Cell. Physiol. , vol.136 , pp. 507-513
    • Robin, E.D.1    Wong, R.2
  • 2
    • 0015504248 scopus 로고
    • Rate of depurination of native deoxyribonucleic acid
    • T. Lindahl, and B. Nyberg Rate of depurination of native deoxyribonucleic acid Biochemistry 11 1972 3610 3618
    • (1972) Biochemistry , vol.11 , pp. 3610-3618
    • Lindahl, T.1    Nyberg, B.2
  • 3
    • 0015504253 scopus 로고
    • Rate of chain breakage at apurinic sites in double-stranded deoxyribonucleic acid
    • T. Lindahl, and A. Andersson Rate of chain breakage at apurinic sites in double-stranded deoxyribonucleic acid Biochemistry 11 1972 3618 3623
    • (1972) Biochemistry , vol.11 , pp. 3618-3623
    • Lindahl, T.1    Andersson, A.2
  • 5
    • 0032824224 scopus 로고    scopus 로고
    • A validation study for the extraction and analysis of DNA from human nail material and its application to forensic casework
    • T.D. Anderson, J.P. Ross, R.K. Roby, D.A. Lee, and M.M. Holland A validation study for the extraction and analysis of DNA from human nail material and its application to forensic casework J. Forensic Sci. 44 1999 1053 1056
    • (1999) J. Forensic Sci. , vol.44 , pp. 1053-1056
    • Anderson, T.D.1    Ross, J.P.2    Roby, R.K.3    Lee, D.A.4    Holland, M.M.5
  • 7
    • 0034963260 scopus 로고    scopus 로고
    • Forensic mitochondrial DNA analysis: two years of commercial casework experience in the United States
    • T. Melton, and K. Nelson Forensic mitochondrial DNA analysis: two years of commercial casework experience in the United States Croat. Med. J. 42 2001 298 303
    • (2001) Croat. Med. J. , vol.42 , pp. 298-303
    • Melton, T.1    Nelson, K.2
  • 8
    • 0034961165 scopus 로고    scopus 로고
    • Human hair histogenesis for the mitochondrial DNA forensic scientist
    • C.A. Linch, D.A. Whiting, and M.M. Holland Human hair histogenesis for the mitochondrial DNA forensic scientist J. Forensic Sci. 46 2001 844 853
    • (2001) J. Forensic Sci. , vol.46 , pp. 844-853
    • Linch, C.A.1    Whiting, D.A.2    Holland, M.M.3
  • 9
    • 0037347836 scopus 로고    scopus 로고
    • The fingernails of Mary Sullivan: developing reliable methods for selectively isolating endogenous and exogenous DNA from evidence
    • R.E. Cline, N.M. Laurent, and D.R. Foran The fingernails of Mary Sullivan: developing reliable methods for selectively isolating endogenous and exogenous DNA from evidence J. Forensic Sci. 48 2003 328 333
    • (2003) J. Forensic Sci. , vol.48 , pp. 328-333
    • Cline, R.E.1    Laurent, N.M.2    Foran, D.R.3
  • 11
    • 0002260414 scopus 로고    scopus 로고
    • Mitochondrial DNA sequence analysis - validation and use for forensic casework
    • M. Holland, and T.J. Parsons Mitochondrial DNA sequence analysis - validation and use for forensic casework Forensic Sci. Rev. 11 1999 29
    • (1999) Forensic Sci. Rev. , vol.11 , pp. 29
    • Holland, M.1    Parsons, T.J.2
  • 13
    • 84907515952 scopus 로고    scopus 로고
    • Guidelines for mitochondrial DNA (mtDNA) nucleotide sequence interpretation
    • SWGDAM Guidelines for mitochondrial DNA (mtDNA) nucleotide sequence interpretation Forensic Sci. 2003
    • (2003) Forensic Sci.
    • SWGDAM1
  • 15
    • 84907343169 scopus 로고    scopus 로고
    • DNA Commission of the International Society for Forensic Genetics: revised and extended guidelines for mitochondrial DNA typing
    • W. Parson, L. Gusmao, D.R. Hares, J.A. Irwin, W.R. Mayr, N. Morling, and et al. DNA Commission of the International Society for Forensic Genetics: revised and extended guidelines for mitochondrial DNA typing Forensic Sci. Int. Genet. 13 2014 134 142
    • (2014) Forensic Sci. Int. Genet. , vol.13 , pp. 134-142
    • Parson, W.1    Gusmao, L.2    Hares, D.R.3    Irwin, J.A.4    Mayr, W.R.5    Morling, N.6
  • 16
    • 10744223541 scopus 로고    scopus 로고
    • Results of a collaborative study of the EDNAP group regarding mitochondrial DNA heteroplasmy and segregation in hair shafts
    • G. Tully, S.M. Barritt, K. Bender, E. Brignon, C. Capelli, N. Dimo-Simonin, and et al. Results of a collaborative study of the EDNAP group regarding mitochondrial DNA heteroplasmy and segregation in hair shafts Forensic Sci. Int. 140 2004 1 11
    • (2004) Forensic Sci. Int. , vol.140 , pp. 1-11
    • Tully, G.1    Barritt, S.M.2    Bender, K.3    Brignon, E.4    Capelli, C.5    Dimo-Simonin, N.6
  • 17
    • 0030788198 scopus 로고    scopus 로고
    • A family exhibiting heteroplasmy in the human mitochondrial DNA control region reveals both somatic mosaicism and pronounced segregation of mitotypes
    • M.R. Wilson, D. Polanskey, J. Replogle, J.A. DiZinno, and B. Budowle A family exhibiting heteroplasmy in the human mitochondrial DNA control region reveals both somatic mosaicism and pronounced segregation of mitotypes Hum. Genet. 100 1997 167 171
    • (1997) Hum. Genet. , vol.100 , pp. 167-171
    • Wilson, M.R.1    Polanskey, D.2    Replogle, J.3    DiZinno, J.A.4    Budowle, B.5
  • 18
    • 0033941178 scopus 로고    scopus 로고
    • The frequency of heteroplasmy in the HVII region of mtDNA differs across tissue types and increases with age
    • C.D. Calloway, R.L. Reynolds, G.L. Herrin Jr., and W.W. Anderson The frequency of heteroplasmy in the HVII region of mtDNA differs across tissue types and increases with age Am. J. Hum. Genet. 66 2000 1384 1397
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 1384-1397
    • Calloway, C.D.1    Reynolds, R.L.2    Herrin, G.L.3    Anderson, W.W.4
  • 19
    • 67349134670 scopus 로고    scopus 로고
    • Investigation of heteroplasmy in the human mitochondrial DNA control region: a synthesis of observations from more than 5000 global population samples
    • J.A. Irwin, J.L. Saunier, H. Niederstätter, K.M. Strouss, K.A. Sturk, T.M. Diegoli, and et al. Investigation of heteroplasmy in the human mitochondrial DNA control region: a synthesis of observations from more than 5000 global population samples J. Mol. Evol. 68 2009 516 527
    • (2009) J. Mol. Evol. , vol.68 , pp. 516-527
    • Irwin, J.A.1    Saunier, J.L.2    Niederstätter, H.3    Strouss, K.M.4    Sturk, K.A.5    Diegoli, T.M.6
  • 20
    • 0029864498 scopus 로고    scopus 로고
    • Human brain contains high levels of heteroplasmy in the noncoding regions of mitochondrial DNA
    • E.E. Jazin, L. Cavelier, I. Eriksson, L. Oreland, and U. Gyllensten Human brain contains high levels of heteroplasmy in the noncoding regions of mitochondrial DNA Proc. Natl. Acad. Sci. USA 93 1996 12382 12387
    • (1996) Proc. Natl. Acad. Sci. USA , vol.93 , pp. 12382-12387
    • Jazin, E.E.1    Cavelier, L.2    Eriksson, I.3    Oreland, L.4    Gyllensten, U.5
  • 22
    • 84895073016 scopus 로고    scopus 로고
    • Tissue-specific mitochondrial heteroplasmy at position 16,093 within the same individual
    • K. Krjutskov, M. Koltsina, K. Grand, U. Vosa, M. Sauk, N. Tonisson, and et al. Tissue-specific mitochondrial heteroplasmy at position 16,093 within the same individual Curr. Genet. 60 2014 11 16
    • (2014) Curr. Genet. , vol.60 , pp. 11-16
    • Krjutskov, K.1    Koltsina, M.2    Grand, K.3    Vosa, U.4    Sauk, M.5    Tonisson, N.6
  • 23
    • 84937145898 scopus 로고    scopus 로고
    • Evidence for frequent and tissue-specific sequence heteroplasmy in human mitochondrial DNA
    • J. Naue, S. Horer, T. Sanger, C. Strobl, P. Hatzer-Grubwieser, W. Parson, and et al. Evidence for frequent and tissue-specific sequence heteroplasmy in human mitochondrial DNA Mitochondrion 20 2015 82 94
    • (2015) Mitochondrion , vol.20 , pp. 82-94
    • Naue, J.1    Horer, S.2    Sanger, T.3    Strobl, C.4    Hatzer-Grubwieser, P.5    Parson, W.6
  • 25
    • 0029997198 scopus 로고    scopus 로고
    • Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II
    • P.L. Ivanov, M.J. Wadhams, R.K. Roby, M.M. Holland, V.W. Weedn, and T.J. Parsons Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II Nat. Genet. 12 1996 417 420
    • (1996) Nat. Genet. , vol.12 , pp. 417-420
    • Ivanov, P.L.1    Wadhams, M.J.2    Roby, R.K.3    Holland, M.M.4    Weedn, V.W.5    Parsons, T.J.6
  • 27
    • 0026071738 scopus 로고
    • Population variation of human mtDNA control region sequences detected by enzymatic amplification and sequence-specific oligonucleotide probes
    • M. Stoneking, D. Hedgecock, R.G. Higuchi, L. Vigilant, and H.A. Erlich Population variation of human mtDNA control region sequences detected by enzymatic amplification and sequence-specific oligonucleotide probes Am. J. Hum. Genet. 48 1991 370 382
    • (1991) Am. J. Hum. Genet. , vol.48 , pp. 370-382
    • Stoneking, M.1    Hedgecock, D.2    Higuchi, R.G.3    Vigilant, L.4    Erlich, H.A.5
  • 28
    • 0027157960 scopus 로고
    • Estimation of the number of nucleotide substitutions in the control region of mitochondrial DNA in humans and chimpanzees
    • K. Tamura, and M. Nei Estimation of the number of nucleotide substitutions in the control region of mitochondrial DNA in humans and chimpanzees Mol. Biol. Evol. 10 1993 512 526
    • (1993) Mol. Biol. Evol. , vol.10 , pp. 512-526
    • Tamura, K.1    Nei, M.2
  • 29
    • 0027428406 scopus 로고
    • Toward a more accurate time scale for the human mitochondrial DNA tree
    • M. Hasegawa, A. Di Rienzo, T.D. Kocher, and A.C. Wilson Toward a more accurate time scale for the human mitochondrial DNA tree J. Mol. Evol. 37 1993 347 354
    • (1993) J. Mol. Evol. , vol.37 , pp. 347-354
    • Hasegawa, M.1    Di Rienzo, A.2    Kocher, T.D.3    Wilson, A.C.4
  • 30
    • 0029759163 scopus 로고    scopus 로고
    • How rapidly does the human mitochondrial genome evolve?
    • N. Howell, I. Kubacka, and D.A. Mackey How rapidly does the human mitochondrial genome evolve? Am. J. Hum. Genet. 59 1996 501 509
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 501-509
    • Howell, N.1    Kubacka, I.2    Mackey, D.A.3
  • 32
    • 0037372985 scopus 로고    scopus 로고
    • The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates
    • N. Howell, C.B. Smejkal, D.A. Mackey, P.F. Chinnery, D.M. Turnbull, and C. Herrnstadt The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates Am. J. Hum. Genet. 72 2003 659 670
    • (2003) Am. J. Hum. Genet. , vol.72 , pp. 659-670
    • Howell, N.1    Smejkal, C.B.2    Mackey, D.A.3    Chinnery, P.F.4    Turnbull, D.M.5    Herrnstadt, C.6
  • 36
    • 33751538896 scopus 로고    scopus 로고
    • High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients
    • H.J. Bandelt, Y.G. Yao, A. Salas, T. Kivisild, and C.M. Bravi High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients Biochem. Biophys. Res. Commun. 352 2007 283 291
    • (2007) Biochem. Biophys. Res. Commun. , vol.352 , pp. 283-291
    • Bandelt, H.J.1    Yao, Y.G.2    Salas, A.3    Kivisild, T.4    Bravi, C.M.5
  • 38
    • 77955562856 scopus 로고    scopus 로고
    • Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes
    • M. Li, A. Schonberg, M. Schaefer, R. Schroeder, I. Nasidze, and M. Stoneking Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes Am. J. Hum. Genet. 87 2010 237 249
    • (2010) Am. J. Hum. Genet. , vol.87 , pp. 237-249
    • Li, M.1    Schonberg, A.2    Schaefer, M.3    Schroeder, R.4    Nasidze, I.5    Stoneking, M.6
  • 41
    • 84891044032 scopus 로고    scopus 로고
    • Very low-level heteroplasmy mtDNA variations are inherited in humans
    • Y. Guo, C.I. Li, Q. Sheng, J.F. Winther, Q. Cai, J.D. Boice, and et al. Very low-level heteroplasmy mtDNA variations are inherited in humans J. Genet. Genomics 40 2013 607 615
    • (2013) J. Genet. Genomics , vol.40 , pp. 607-615
    • Guo, Y.1    Li, C.I.2    Sheng, Q.3    Winther, J.F.4    Cai, Q.5    Boice, J.D.6
  • 42
    • 84911408203 scopus 로고    scopus 로고
    • Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data
    • M.A. Diroma, C. Calabrese, D. Simone, M. Santorsola, F.M. Calabrese, G. Gasparre, and et al. Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data BMC Genomics 15 Suppl. 3 2014 S2
    • (2014) BMC Genomics , vol.15 , pp. S2
    • Diroma, M.A.1    Calabrese, C.2    Simone, D.3    Santorsola, M.4    Calabrese, F.M.5    Gasparre, G.6
  • 43
    • 84904650179 scopus 로고    scopus 로고
    • Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals
    • K. Ye, J. Lu, F. Ma, A. Keinan, and Z. Gu Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals Proc. Natl. Acad. Sci. USA 111 2014 10654 10659
    • (2014) Proc. Natl. Acad. Sci. USA , vol.111 , pp. 10654-10659
    • Ye, K.1    Lu, J.2    Ma, F.3    Keinan, A.4    Gu, Z.5
  • 44
    • 84921415130 scopus 로고    scopus 로고
    • Heteroplasmic substitutions in the entire mitochondrial genomes of human colon cells detected by ultra-deep 454 sequencing
    • K. Skonieczna, B. Malyarchuk, A. Jawien, A. Marszalek, Z. Banaszkiewicz, P. Jarmocik, and et al. Heteroplasmic substitutions in the entire mitochondrial genomes of human colon cells detected by ultra-deep 454 sequencing Forensic Sci. Int. Genet. 15 2015 16 20
    • (2015) Forensic Sci. Int. Genet. , vol.15 , pp. 16-20
    • Skonieczna, K.1    Malyarchuk, B.2    Jawien, A.3    Marszalek, A.4    Banaszkiewicz, Z.5    Jarmocik, P.6
  • 45
    • 79959467651 scopus 로고    scopus 로고
    • Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study
    • H. Goto, B. Dickins, E. Afgan, I.M. Paul, J. Taylor, K.D. Makova, and A. Nekrutenko Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study Genome Biol. 12 2011 R59
    • (2011) Genome Biol. , vol.12 , pp. R59
    • Goto, H.1    Dickins, B.2    Afgan, E.3    Paul, I.M.4    Taylor, J.5    Makova, K.D.6    Nekrutenko, A.7
  • 46
    • 84923675351 scopus 로고    scopus 로고
    • Extensive tissue-related and allele-related mtDNA heteroplasmy suggests positive selection for somatic mutations
    • M. Li, R. Schroder, S. Ni, B. Madea, and M. Stoneking Extensive tissue-related and allele-related mtDNA heteroplasmy suggests positive selection for somatic mutations Proc. Natl. Acad. Sci. USA 112 2015 2491 2496
    • (2015) Proc. Natl. Acad. Sci. USA , vol.112 , pp. 2491-2496
    • Li, M.1    Schroder, R.2    Ni, S.3    Madea, B.4    Stoneking, M.5
  • 48
    • 84857156825 scopus 로고    scopus 로고
    • A comparison of cataloged variation between International HapMap Consortium and 1000 Genomes Project data
    • C.C. Buchanan, E.S. Torstenson, W.S. Bush, and M.D. Ritchie A comparison of cataloged variation between International HapMap Consortium and 1000 Genomes Project data J. Am. Med. Inform. Assoc. 19 2012 289 294
    • (2012) J. Am. Med. Inform. Assoc. , vol.19 , pp. 289-294
    • Buchanan, C.C.1    Torstenson, E.S.2    Bush, W.S.3    Ritchie, M.D.4
  • 49
    • 84890359558 scopus 로고    scopus 로고
    • Finding the needle in the haystack: differentiating identical twins in paternity testing and forensics by ultra-deep next generation sequencing
    • J. Weber-Lehmann, E. Schilling, G. Gradl, D.C. Richter, J. Wiehler, and B. Rolf Finding the needle in the haystack: differentiating identical twins in paternity testing and forensics by ultra-deep next generation sequencing Forensic Sci. Int. Genet. 9 2014 42 46
    • (2014) Forensic Sci. Int. Genet. , vol.9 , pp. 42-46
    • Weber-Lehmann, J.1    Schilling, E.2    Gradl, G.3    Richter, D.C.4    Wiehler, J.5    Rolf, B.6
  • 50
    • 84880874709 scopus 로고    scopus 로고
    • Evaluation of next generation mtGenome sequencing using the Ion Torrent Personal Genome Machine (PGM)
    • W. Parson, C. Strobl, G. Huber, B. Zimmermann, S.M. Gomes, L. Souto, and et al. Evaluation of next generation mtGenome sequencing using the Ion Torrent Personal Genome Machine (PGM) Forensic Sci. Int. Genet. 7 2013 543 549
    • (2013) Forensic Sci. Int. Genet. , vol.7 , pp. 543-549
    • Parson, W.1    Strobl, C.2    Huber, G.3    Zimmermann, B.4    Gomes, S.M.5    Souto, L.6
  • 51
    • 84904976036 scopus 로고    scopus 로고
    • Development and assessment of an optimized next-generation DNA sequencing approach for the mtgenome using the Illumina MiSeq
    • J.A. McElhoe, M.M. Holland, K.D. Makova, M.S. Su, I.M. Paul, C.H. Baker, and et al. Development and assessment of an optimized next-generation DNA sequencing approach for the mtgenome using the Illumina MiSeq Forensic Sci. Int. Genet. 13 2014 20 29
    • (2014) Forensic Sci. Int. Genet. , vol.13 , pp. 20-29
    • McElhoe, J.A.1    Holland, M.M.2    Makova, K.D.3    Su, M.S.4    Paul, I.M.5    Baker, C.H.6
  • 52
    • 84903189897 scopus 로고    scopus 로고
    • High-quality and high-throughput massively parallel sequencing of the human mitochondrial genome using the Illumina MiSeq
    • J.L. King, B.L. LaRue, N.M. Novroski, M. Stoljarova, S.B. Seo, X. Zeng, and et al. High-quality and high-throughput massively parallel sequencing of the human mitochondrial genome using the Illumina MiSeq Forensic Sci. Int. Genet. 12 2014 128 135
    • (2014) Forensic Sci. Int. Genet. , vol.12 , pp. 128-135
    • King, J.L.1    LaRue, B.L.2    Novroski, N.M.3    Stoljarova, M.4    Seo, S.B.5    Zeng, X.6
  • 53
    • 84927041444 scopus 로고    scopus 로고
    • Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
    • S. Seneca, K. Vancampenhout, R. Van Coster, J. Smet, W. Lissens, A. Vanlander, and et al. Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench? Eur. J. Hum. Genet. 23 2015 41 48
    • (2015) Eur. J. Hum. Genet. , vol.23 , pp. 41-48
    • Seneca, S.1    Vancampenhout, K.2    Van Coster, R.3    Smet, J.4    Lissens, W.5    Vanlander, A.6
  • 54
    • 84911406474 scopus 로고    scopus 로고
    • A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome
    • K. Vancampenhout, B. Caljon, C. Spits, K. Stouffs, A. Jonckheere, L. De Meirleir, and et al. A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome PLoS ONE 29 2014 e112950
    • (2014) PLoS ONE , vol.29
    • Vancampenhout, K.1    Caljon, B.2    Spits, C.3    Stouffs, K.4    Jonckheere, A.5    De Meirleir, L.6
  • 55
    • 84904736781 scopus 로고    scopus 로고
    • Patterns of sequencing coverage bias revealed by ultra-deep sequencing of vertebrate mitochondria
    • R. Ekblom, L. Smeds, and H. Ellegren Patterns of sequencing coverage bias revealed by ultra-deep sequencing of vertebrate mitochondria BMC Genomics 15 2014 467
    • (2014) BMC Genomics , vol.15 , pp. 467
    • Ekblom, R.1    Smeds, L.2    Ellegren, H.3
  • 56
    • 84861337035 scopus 로고    scopus 로고
    • A new approach for detecting low-level mutations in next-generation sequence data
    • M. Li, and M. Stoneking A new approach for detecting low-level mutations in next-generation sequence data Genome Biol. 13 2012 R34
    • (2012) Genome Biol. , vol.13 , pp. R34
    • Li, M.1    Stoneking, M.2
  • 57
    • 80055111869 scopus 로고    scopus 로고
    • Primer extension capture: targeted sequence retrieval from heavily degraded DNA sources
    • A.W. Briggs, J.M. Good, R.E. Green, J. Krause, T. Maricic, U. Stenzel, and et al. Primer extension capture: targeted sequence retrieval from heavily degraded DNA sources J. Visual. Exp. 31 2009 1573
    • (2009) J. Visual. Exp. , vol.31 , pp. 1573
    • Briggs, A.W.1    Good, J.M.2    Green, R.E.3    Krause, J.4    Maricic, T.5    Stenzel, U.6
  • 58
    • 78649512174 scopus 로고    scopus 로고
    • Multiplexed DNA sequence capture of mitochondrial genomes using PCR products
    • T. Maricic, M. Whitten, and S. Paabo Multiplexed DNA sequence capture of mitochondrial genomes using PCR products PLoS ONE 5 2010 e14004
    • (2010) PLoS ONE , vol.5
    • Maricic, T.1    Whitten, M.2    Paabo, S.3
  • 59
    • 77952206860 scopus 로고    scopus 로고
    • Targeted investigation of the Neandertal genome by array-based sequence capture
    • H.A. Burbano, E. Hodges, R.E. Green, A.W. Briggs, J. Krause, M. Meyer, and et al. Targeted investigation of the Neandertal genome by array-based sequence capture Science 328 2010 723 725
    • (2010) Science , vol.328 , pp. 723-725
    • Burbano, H.A.1    Hodges, E.2    Green, R.E.3    Briggs, A.W.4    Krause, J.5    Meyer, M.6
  • 60
    • 77950820147 scopus 로고    scopus 로고
    • The complete mitochondrial DNA genome of an unknown hominin from southern Siberia
    • J. Krause, Q. Fu, J.M. Good, B. Viola, M.V. Shunkov, A.P. Derevianko, and et al. The complete mitochondrial DNA genome of an unknown hominin from southern Siberia Nature 464 2010 894 897
    • (2010) Nature , vol.464 , pp. 894-897
    • Krause, J.1    Fu, Q.2    Good, J.M.3    Viola, B.4    Shunkov, M.V.5    Derevianko, A.P.6
  • 61
    • 84892572735 scopus 로고    scopus 로고
    • A mitochondrial genome sequence of a hominin from Sima de los Huesos
    • M. Meyer, Q. Fu, A. Aximu-Petri, I. Glocke, B. Nickel, J.L. Arsuaga, and et al. A mitochondrial genome sequence of a hominin from Sima de los Huesos Nature 505 2014 403 406
    • (2014) Nature , vol.505 , pp. 403-406
    • Meyer, M.1    Fu, Q.2    Aximu-Petri, A.3    Glocke, I.4    Nickel, B.5    Arsuaga, J.L.6
  • 62
    • 82455164206 scopus 로고    scopus 로고
    • Application of next generation sequencing technologies to the identification of highly degraded unknown soldiers' remains
    • O. Loreille, H. Koshinsky, V.Y. Fofanov, and J.A. Irwin Application of next generation sequencing technologies to the identification of highly degraded unknown soldiers' remains Forensic Sci. Int. Genet. Suppl. Ser. 3 2011 e540 e541
    • (2011) Forensic Sci. Int. Genet. Suppl. Ser. , vol.3 , pp. e540-e541
    • Loreille, O.1    Koshinsky, H.2    Fofanov, V.Y.3    Irwin, J.A.4
  • 63
    • 84888595248 scopus 로고    scopus 로고
    • DNA capture and next-generation sequencing can recover whole mitochondrial genomes from highly degraded samples for human identification
    • J.E. Templeton, P.M. Brotherton, B. Llamas, J. Soubrier, W. Haak, A. Cooper, and et al. DNA capture and next-generation sequencing can recover whole mitochondrial genomes from highly degraded samples for human identification Invest. Genet. 4 2013 26
    • (2013) Invest. Genet. , vol.4 , pp. 26
    • Templeton, J.E.1    Brotherton, P.M.2    Llamas, B.3    Soubrier, J.4    Haak, W.5    Cooper, A.6
  • 64
    • 84867487186 scopus 로고    scopus 로고
    • Fidelity of capture-enrichment for mtDNA genome sequencing: influence of NUMTs
    • M. Li, R. Schroeder, A. Ko, and M. Stoneking Fidelity of capture-enrichment for mtDNA genome sequencing: influence of NUMTs Nucleic Acids Res. 40 2012 e137
    • (2012) Nucleic Acids Res. , vol.40 , pp. e137
    • Li, M.1    Schroeder, R.2    Ko, A.3    Stoneking, M.4
  • 65
    • 84903485399 scopus 로고    scopus 로고
    • Simultaneous detection of human mitochondrial DNA and nuclear-inserted mitochondrial-origin sequences (NumtS) using forensic mtDNA amplification strategies and pyrosequencing technology
    • B.J. Bintz, G.B. Dixon, and M.R. Wilson Simultaneous detection of human mitochondrial DNA and nuclear-inserted mitochondrial-origin sequences (NumtS) using forensic mtDNA amplification strategies and pyrosequencing technology J. Forensic Sci. 59 2014 1064 1073
    • (2014) J. Forensic Sci. , vol.59 , pp. 1064-1073
    • Bintz, B.J.1    Dixon, G.B.2    Wilson, M.R.3
  • 66
    • 84923828628 scopus 로고    scopus 로고
    • The genomic landscape of polymorphic human nuclear mitochondrial insertions
    • G. Dayama, S.B. Emery, J.M. Kidd, and R.E. Mills The genomic landscape of polymorphic human nuclear mitochondrial insertions Nucleic Acids Res. 42 2014 12640 12649
    • (2014) Nucleic Acids Res. , vol.42 , pp. 12640-12649
    • Dayama, G.1    Emery, S.B.2    Kidd, J.M.3    Mills, R.E.4
  • 67
  • 68
    • 84908460817 scopus 로고    scopus 로고
    • Full mtGenome reference data: development and characterization of 588 forensic-quality haplotypes representing three U.S. populations
    • R.S. Just, M.K. Scheible, S.A. Fast, K. Sturk-Andreaggi, A.W. Röck, J.M. Bush, and et al. Full mtGenome reference data: development and characterization of 588 forensic-quality haplotypes representing three U.S. populations Forersic Sci. Int. Genet. 14 2015 141 155
    • (2015) Forersic Sci. Int. Genet. , vol.14 , pp. 141-155
    • Just, R.S.1    Scheible, M.K.2    Fast, S.A.3    Sturk-Andreaggi, K.4    Röck, A.W.5    Bush, J.M.6
  • 69
    • 84882731702 scopus 로고    scopus 로고
    • MitoSeek: extracting mitochondria information and performing high-throughput mitochondria sequencing analysis
    • Y. Guo, J. Li, C.I. Li, Y. Shyr, and D.C. Samuels MitoSeek: extracting mitochondria information and performing high-throughput mitochondria sequencing analysis Bioinformatics 29 2013 1210 1211
    • (2013) Bioinformatics , vol.29 , pp. 1210-1211
    • Guo, Y.1    Li, J.2    Li, C.I.3    Shyr, Y.4    Samuels, D.C.5
  • 70
    • 84911428521 scopus 로고    scopus 로고
    • MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing
    • C. Calabrese, D. Simone, M.A. Diroma, M. Santorsola, C. Gutta, G. Gasparre, and et al. MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing Bioinformatics 30 2014 3115 3117
    • (2014) Bioinformatics , vol.30 , pp. 3115-3117
    • Calabrese, C.1    Simone, D.2    Diroma, M.A.3    Santorsola, M.4    Gutta, C.5    Gasparre, G.6
  • 71
    • 0033851835 scopus 로고    scopus 로고
    • A sensitive denaturing gradient-gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervariable region 1 of the human mtDNA control region
    • L.A. Tully, T.J. Parsons, R.J. Steighner, M.M. Holland, M.A. Marino, and V.L. Prenger A sensitive denaturing gradient-gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervariable region 1 of the human mtDNA control region Am. J. Hum. Genet. 67 2000 432 443
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 432-443
    • Tully, L.A.1    Parsons, T.J.2    Steighner, R.J.3    Holland, M.M.4    Marino, M.A.5    Prenger, V.L.6
  • 73
    • 66749153836 scopus 로고    scopus 로고
    • Correcting for purifying selection: an improved human mitochondrial molecular clock
    • P. Soares, L. Ermini, N. Thomson, M. Mormina, T. Rito, A. Rohl, and et al. Correcting for purifying selection: an improved human mitochondrial molecular clock Am. J. Hum. Genet. 84 2009 740 759
    • (2009) Am. J. Hum. Genet. , vol.84 , pp. 740-759
    • Soares, P.1    Ermini, L.2    Thomson, N.3    Mormina, M.4    Rito, T.5    Rohl, A.6
  • 74
    • 0031970150 scopus 로고    scopus 로고
    • Population data for 101 Austrian Caucasian mitochondrial DNA d-loop sequences: application of mtDNA sequence analysis to a forensic case
    • W. Parson, T.J. Parsons, R. Scheithauer, and M.M. Holland Population data for 101 Austrian Caucasian mitochondrial DNA d-loop sequences: application of mtDNA sequence analysis to a forensic case Int. J. Legal Med. 111 1998 124 132
    • (1998) Int. J. Legal Med. , vol.111 , pp. 124-132
    • Parson, W.1    Parsons, T.J.2    Scheithauer, R.3    Holland, M.M.4
  • 76
    • 82655172619 scopus 로고    scopus 로고
    • Current next generation sequencing technology may not meet forensic standards
    • H.J. Bandelt, and A. Salas Current next generation sequencing technology may not meet forensic standards Forensic Sci. Int. Genet. 6 2012 143 145
    • (2012) Forensic Sci. Int. Genet. , vol.6 , pp. 143-145
    • Bandelt, H.J.1    Salas, A.2
  • 77
    • 64049089255 scopus 로고    scopus 로고
    • Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation
    • M. van Oven, and M. Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation Hum. Mutat. 30 2009 E386 E394
    • (2009) Hum. Mutat. , vol.30 , pp. E386-E394
    • Van Oven, M.1    Kayser, M.2
  • 78
    • 84908530394 scopus 로고    scopus 로고
    • Questioning the prevalence and reliability of human mitochondrial DNA heteroplasmy from massively parallel sequencing data
    • R.S. Just, J.A. Irwin, and W. Parson Questioning the prevalence and reliability of human mitochondrial DNA heteroplasmy from massively parallel sequencing data Proc. Natl. Acad. Sci. USA 111 2014 E4546 E4547
    • (2014) Proc. Natl. Acad. Sci. USA , vol.111 , pp. E4546-E4547
    • Just, R.S.1    Irwin, J.A.2    Parson, W.3
  • 79
    • 84908556798 scopus 로고    scopus 로고
    • Reply to Just et al.: mitochondrial DNA heteroplasmy could be reliably detected with massively parallel sequencing technologies
    • K. Ye, J. Lu, F. Ma, A. Keinan, and Z. Gu Reply to Just et al.: mitochondrial DNA heteroplasmy could be reliably detected with massively parallel sequencing technologies Proc. Natl. Acad. Sci. USA 111 2014 E4548 E4550
    • (2014) Proc. Natl. Acad. Sci. USA , vol.111 , pp. E4548-E4550
    • Ye, K.1    Lu, J.2    Ma, F.3    Keinan, A.4    Gu, Z.5
  • 81
    • 84925374947 scopus 로고    scopus 로고
    • Sequencing the hypervariable regions of human mitochondrial DNA using massively parallel sequencing: enhanced data acquisition for DNA samples encountered in forensic testing
    • C. Davis, D. Peters, D. Warshauer, J. King, and B. Budowle Sequencing the hypervariable regions of human mitochondrial DNA using massively parallel sequencing: enhanced data acquisition for DNA samples encountered in forensic testing Legal Med. 17 2015 123 127
    • (2015) Legal Med. , vol.17 , pp. 123-127
    • Davis, C.1    Peters, D.2    Warshauer, D.3    King, J.4    Budowle, B.5
  • 82
    • 84901370840 scopus 로고    scopus 로고
    • Improved visibility of character conflicts in quasi-median networks with the EMPOP NETWORK software
    • B. Zimmermann, A.W. Röck, A. Dür, and W. Parson Improved visibility of character conflicts in quasi-median networks with the EMPOP NETWORK software Croat. Med. J. 55 2014 115 120
    • (2014) Croat. Med. J. , vol.55 , pp. 115-120
    • Zimmermann, B.1    Röck, A.W.2    Dür, A.3    Parson, W.4
  • 84
    • 70349910898 scopus 로고    scopus 로고
    • Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data
    • J.F. Degner, J.C. Marioni, A.A. Pai, J.K. Pickrell, E. Nkadori, Y. Gilad, and et al. Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data Bioinformatics 25 2009 3207 3212
    • (2009) Bioinformatics , vol.25 , pp. 3207-3212
    • Degner, J.F.1    Marioni, J.C.2    Pai, A.A.3    Pickrell, J.K.4    Nkadori, E.5    Gilad, Y.6
  • 85
    • 84874524608 scopus 로고    scopus 로고
    • Evaluation of allele frequency estimation using pooled sequencing data simulation
    • Y. Guo, D.C. Samuels, J. Li, T. Clark, J. Li, and Y. Shyr Evaluation of allele frequency estimation using pooled sequencing data simulation Sci. World J. 2013 Article ID 895496
    • (2013) Sci. World J.
    • Guo, Y.1    Samuels, D.C.2    Li, J.3    Clark, T.4    Li, J.5    Shyr, Y.6
  • 86
    • 84907598441 scopus 로고    scopus 로고
    • High-throughput sequencing in mitochondrial DNA research
    • F. Ye, D.C. Samuels, T. Clark, and Y. Guo High-throughput sequencing in mitochondrial DNA research Mitochondrion 17 2014 157 163
    • (2014) Mitochondrion , vol.17 , pp. 157-163
    • Ye, F.1    Samuels, D.C.2    Clark, T.3    Guo, Y.4
  • 87
    • 84902148385 scopus 로고    scopus 로고
    • Short tandem repeat typing on the 454 platform: strategies and considerations for targeted sequencing of common forensic markers
    • M. Scheible, O. Loreille, R. Just, and J. Irwin Short tandem repeat typing on the 454 platform: strategies and considerations for targeted sequencing of common forensic markers Forensic Sci. Int. Genet. 12 2014 107 119
    • (2014) Forensic Sci. Int. Genet. , vol.12 , pp. 107-119
    • Scheible, M.1    Loreille, O.2    Just, R.3    Irwin, J.4
  • 88
    • 84877852300 scopus 로고    scopus 로고
    • STRait razor: a length-based forensic STR allele-calling tool for use with second generation sequencing data
    • D.H. Warshauer, D. Lin, K. Hari, R. Jain, C. Davis, B. Larue, and et al. STRait razor: a length-based forensic STR allele-calling tool for use with second generation sequencing data Forensic Sci. Int. Genet. 7 2013 409 417
    • (2013) Forensic Sci. Int. Genet. , vol.7 , pp. 409-417
    • Warshauer, D.H.1    Lin, D.2    Hari, K.3    Jain, R.4    Davis, C.5    Larue, B.6


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