Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0

BMC Research Notes

Volumn 4, Issue , 2011, Pages

  Zamzami, Mazin A ^a,b   Price, Gareth R ^c   Taylor, Robert W ^d   Blakely, Emma L ^d   Oancea, Iulia ^a,e   Bowling, Francis ^a,e   Duley, John A ^a,e  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^c MATER HOSPITAL   (Australia)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e MATER MEDICAL RESEARCH INSTITUTE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 80054123536     PISSN: None     EISSN: 17560500     Source Type: Journal    
DOI: 10.1186/1756-0500-4-426     Document Type: Article

References (18)

1. Mitochondrial DNA analysis in clinical laboratory diagnostics. Wonga LC, Boles RG, Clinica Chimica Acta. [Review] 2005 354 1 20 10.1016/j.cccn.2004.11. 003 (Pubitemid 40320669)
2. High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays. Kothiyal P, Cox S, Ebert J, Husami A, Kenna MA, Greinwald JH, Aronow BJ, Rehm HL, BMC Biotechnology 2010 10
3. The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection. Maitra A, Cohen Y, Gillespie SE, Mambo E, Fukushima N, Hoque MO, Shah N, Goggins M, Califano J, Sidransky D, Chakravarti A, Genome Res 2004 14 812 9 10.1101/gr.2228504 15123581 (Pubitemid 38660497)
4. An Oligonucleotide Microarray for High-Throughput Sequencing of the Mitochondrial Genome. Zhou S, Kassauei K, Cutler DJ, Kennedy GC, Sidransky D, Maitra A, Califano J, Journal of Molecular Diagnostics 2006 8 476 82 10.2353/jmoldx.2006.060008 16931588 (Pubitemid 44377930)
5. High density synthetic oligonucleotide arrays. Lipshutz RJ, Fodor SPA, Gingeras TR, Lockhart DJ, nature genetics 1999 21 20 4 9915496 (Pubitemid 29031487)
6. Validation of Microarray-Based Resequencing of 93 Worldwide Mitochondrial Genomes. Hartmann A, Thieme M, Nanduri LK, Stempfl T, Moehle C, Kivisild T, Oefner PJ, Human Mutation 2009 30 115 22 10.1002/humu.20816 18623076
7. Design and Validation of a Metabolic Disorder Resequencing Microarray (BRUM1). Bruce CK, Smith M, Rahman F, Liu Z, McMullan DJ, Ball S, Hartley J, Kroos MA, Heptinstall L, Reuser AJJ, Arndt Rolfs A, Hendriksz C, Kelly DA, Barrett TG, MacDonald F, Maher ER, Gissen P, Human Mutation 2010 31 858 65 10.1002/humu.21261 20578233
8. An Overview of Custom Array Sequencing. Kothiyal P, Cox S, Ebert J, Aronow BJ, Greinwald JH, Rehm HL, Current Protocols in Human Genetics 2009 7 1 11
9. A bioinformatic filter for improved base-call accuracy and polymorphism detection using the Affymetrix GeneChip whole-genome resequencing platform. Pandya GA, Holmes M, Sunkara S, Sparks A, Bai Y, Verratti K, Saeed K, Venepally P, Jarrahi B, Fleischmann RD, Peterson1 SN, Nucleic Acids Research 2007 35
10. ReseqChip: Automated integration of multiple local context probe data from the MitoChip array in mitochondrial DNA sequence assembly. Thieme M, Lottaz C, Niederstätter H, Parson W, Spang R, Oefner PJ, BMC Bioinformatics 2009: 440 2009 10 1 10
11. ResqMi-a Versatile Algorithm and Software for Resequencing Microarrays. Symons S, Weber K, Bonin M, Nieselt K, German Conference on Bioinformatics GI 2008 136 10 20
12. Comparisons of substitution, insertion and deletion probes for resequencing and mutational analysis using oligonucleotide microarrays. Karaman MW, Groshen1 S, Lee C-C, Pike BL, Hacia JG, Nucleic Acids Research 2005 33 1 9 10.1093/nar/gki140 15640442 (Pubitemid 40276924)
13. Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency. Marinaki AM, Escuredo E, Duley JA, Simmonds HA, Amici A, Naponelli V, Magni G, Seip M, Ben-Bassat I, Harley EH, Thein SL, Rees DC, Blood 2001 97 3327 32 10.1182/blood.V97.11.3327 11369620
14. Mitochondrial DNA mutations in human colonic crypts and stem cells. Taylor RW, Barron MJ, Borthwick GM, Gospel A, Chinnery PF, Samuels DC, Taylor GA, Plusa SM, Needham SJ, Greaves LC, Kirkwood TBL, Turnbull DM, J Clin Invest 2003 112 1351 60 14597761 (Pubitemid 38057689)
15. Sequence and organization of the human mitochondrial genome. Anderson S, Bankier AT, Barrell BG, De Bruijn MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, R S, Young IG, Nature 1981 290 457 65 10.1038/290457a0 7219534 (Pubitemid 11159074)
16. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N, Nature Genetics 1999 23 147 10.1038/13779 10508508 (Pubitemid 29455385)
17. Heteroplasmic mitochondrial DNA mutations in normal and tumour cells. He Y, Wu J, Dressman DC, Iacobuzio-Donahue C, Markowitz SD, Velculescu VE, Diaz LA Jr, Kinzler KW, Vogelstein B, Papadopoulos N, Nature 2010 464 610 4 10.1038/nature08802 20200521
18. Next Generation Sequencing for Clinical Diagnostics-Principles and Application to Targeted Resequencing for Hypertrophic Cardiomyopathy. Voelkerding KV, Dames S, Durtschi JD, Journal of Molecular Diagnostics 2010 12 539 51 10.2353/jmoldx.2010.100043 20805560