Exome sequencing and high-density microarray testing in monozygotic twin pairs discordant for features of VACTERL association NISC comparative sequencing program

Molecular Syndromology

Volumn 4, Issue 1-2, 2013, Pages 27-31

  Solomon, B D ^a,b   Pineda Alvarez, D E ^a   Hadley, D W ^a   Hansen, N F ^a   Kamat, A ^a   Donovan, F X ^a   Chandrasekharappa, S C ^a   Hong, S K ^a   Roessler, E ^a   Mullikin, J C ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Exome sequencing; Twin studies; VACTERL association

Indexed keywords

ANUS ATRESIA; ARTICLE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; EXOME; GENETIC ANALYSIS; HEREDITY; HUMAN; KIDNEY MALFORMATION; LIMB MALFORMATION; MICROARRAY ANALYSIS; MONOZYGOTIC TWINS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; TRACHEOESOPHAGEAL FISTULA; TWIN DISCORDANCE; VERTEBRA MALFORMATION;

EID: 84874045407     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000345406     Document Type: Article

References (20)

1. Bartels E, Schulz AC, Mora NW, Pineda-Alvarez DE, Wijers CH, et al: VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. Clin Dysmor-phol 21: 191-195 (2012).
2. Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, et al: Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456: 53-59 (2008).
3. Biesecker LG, Mullikin JC, Facio FM, Turner C, Cherukuri PF, et al: The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res 19: 1665-1674 (2009).
4. Biesecker LG, Shianna K V, Mullikin JC: Exome sequencing: the expert view. Genome Biol 12: 128 (2011).
5. Gnirke A, Melnikov A, Maguire J, Rogov P, LeProust EM, et al: Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Bio-technol 27: 182-189 (2009).
6. Gunderson KL, Steemers FJ, Lee G, Mendoza LG, Chee MS: A genome-wide scalable SNP genotyping assay using microarray technology. Nat Genet 37: 549-554 (2005).
7. Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, et al: Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 32: 285-289 (2002).
8. Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, et al: A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 365: 611-619 (2011).
9. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, et al: Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42: 30-35 (2010).
10. Quan L, Smith DW: The VATER association. Vertebral defects, anal atresia, T-E fistula with esophageal atresia, radial and renal dys-plasia: a spectrum of associated defects. J Pe-diatr 82: 104-107 (1973).
11. Robertson SP, Thompson S, Morgan T, Holder-Espinasse M, Martinot-Duquenoy V, et al: Postzygotic mutation and germline mosa-icism in the otopalatodigital syndrome spectrum disorders. Eur J Hum Genet 14: 549-554 (2006).
12. Sakuntabhai A, Ruiz-Perez V, Carter S, Jacobsen N, Burge S, et al: Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet 21: 271-277 (1999).
13. Solomon BD: VACTERL/VATER Association. Orphanet J Rare Dis 6: 56 (2011).
14. Solomon BD, Pineda-Alvarez DE, Raam MS, Bous SM, Keaton AA, et al: Analysis of component findings in 79 patients diagnosed with VACTERL association. Am J Med Genet A 152A:2236-2244 (2010).
15. Solomon BD, Pineda-Alvarez DE, Hadley DW, NISC Comparative Sequencing Program, Teer JK, et al: Personalized genomic medicine: lessons from the exome. Mol Genet Metab 104: 189-191 (2011).
16. Teer JK, Bonnycastle LL, Chines PS, Hansen NF, Aoyama N, et al: Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res 20: 1420-1431 (2010).
17. Teer JK, Green ED, Mullikin JC, Biesecker LG: VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer. Bioinformatics 28: 599-600 (2012).
18. Wang K, Li M, Hadley D, Liu R, Glessner J, et al: PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17: 1665-1674 (2007).
19. Zhang J, Feuk L, Duggan GE, Khaja R, Scherer SW: Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome. Cytogenet Genome Res 115: 205-214 (2006).
20. Zwijnenburg PJ, Meijers-Heijboer H, Boomsma DI: Identical but not the same: the value of discordant monozygotic twins in genetic research. Am J Med Genet B Neuropsychiatr Genet 153B:1134-1149 (2010).