すごい勢いでSNP解析の論文が出ています

某大学医学部の先生から、ここのところ立て続けに次世代で病気と関連するSNPを見つけたという論文が出ているとの情報をいただきましたので、ちょっとPubmedを（exome sequencing)というキーワードで検索してみたところ、34の論文(内７月と８月１２報）が出てきましたので貼り付けました。

1: 
Wijers CH, de Blaauw I, Marcelis CL, Wijnen RM, Brunner H, Midrio P, Gamba P, 
Clementi M, Jenetzky E, Zwink N, Reutter H, Bartels E, Grasshoff-Derr S,
Holland-Cunz S, Hosie S, Märzheuser S, Schmiedeke E, Crétolle C, Sarnacki S,
Levitt MA, Knoers NV, Roeleveld N, van Rooij IA. 
Research perspectives in theetiology of congenital anorectal malformations
 using data of the International Consortium on Anorectal Malformations: 
evidence for risk factors across different populations. 
Pediatr Surg Int. 2010 Aug 21. [Epub ahead of print] PubMed PMID:20730541.

2: 
Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatlı B, Yalnızoğlu D, Tüysüz
B, Cağlayan AO, Gökben S, Kaymakçalan H, Barak T, Bakırcıoğlu M, Yasuno K, Ho W, 
Sanders S, Zhu Y, Yılmaz S, Dinçer A, Johnson MH, Bronen RA, Koçer N, Per H, Mane
S, Pamir MN, Yalçınkaya C, Kumandaş S, Topçu M, Ozmen M, Sestan N, Lifton RP,
State MW, Günel M. 
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. 
Nature. 2010 Aug 22. [Epub ahead of print] PubMed PMID: 20729831.

3: 
Rios J, Stein E, Shendure J, Hobbs HH, Cohen JC. 
Identification by Whole
Genome Resequencing of Gene Defect Responsible for Severe Hypercholesterolemia.
Hum Mol Genet. 2010 Aug 18. [Epub ahead of print] PubMed PMID: 20719861.

4: 
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI,
Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, 
Yoshiura KI, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. 
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. 
Nat Genet. 2010 Aug 15. [Epub ahead of print] PubMed PMID: 20711175.

5: 
Teer JK, Mullikin JC. 
Exome sequencing: the sweet spot before whole genomes.
Hum Mol Genet. 2010 Aug 24. [Epub ahead of print] PubMed PMID: 20705737.

6: 
Bowden DW, An SS, Palmer ND, Brown WM, Norris JM, Haffner SM, Hawkins GA, Guo 
X, Rotter JI, Chen YD, Wagenknecht LE, Langefeld CD. 
Molecular basis of a linkage peak: exome sequencing and family-based analysis 
identify a rare genetic variant in the ADIPOQ gene in the IRAS Family Study. 
Hum Mol Genet. 2010 Aug 24. [Epubahead of print] PubMed PMID: 20688759.

7: 
Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM,
Levy-Lahad E, Klevit RE, King MC. 
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis,
 hearing loss, and ataxia of Perrault Syndrome. 
Am J Hum Genet. 2010 Aug 13;87(2):282-8. Epub 2010 Jul 30. PubMed PMID: 20673864.

8: 
Kobelka CE. 
Exome sequencing: expanding the genetic testing toolbox. 
Clin Genet. 2010 Aug;78(2):132-4. PubMed PMID: 20662854.

9: 
Kim DW, Nam SH, Kim RN, Choi SH, Park HS. 
Whole human exome capture for high-throughput sequencing. 
Genome. 2010 Jul;53(7):568-74. PubMed PMID: 20616878.

10: 
Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, Abu Rayyan A,
Loulus S, Avraham KB, King MC, Kanaan M. 
Whole exome sequencing and homozygosity mapping identify mutation in the cell 
polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. 
Am J Hum Genet. 2010 Jul 9;87(1):90-4. Epub
2010 Jun 17. PubMed PMID: 20602914; PubMed Central PMCID: PMC2896776.

11: 
Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson
SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den
Dunnen JT, Breuning MH. 
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. 
Am J Hum Genet. 2010 Jul 9;87(1):146-53.
PubMed PMID: 20598277; PubMed Central PMCID: PMC2896768.

12: 
Cirulli ET, Singh A, Shianna KV, Ge D, Smith JP, Maia JM, Heinzen EL, Goedert
JJ, Goldstein DB; 
Center for HIV/AIDS Vaccine Immunology (CHAVI). Screening the human exome:
 a comparison of whole genome and whole transcriptome sequencing.
Genome Biol. 2010;11(5):R57. Epub 2010 May 28. PubMed PMID: 20598109; PubMed
Central PMCID: PMC2898068.

13: 
Pussegoda KA. 
Exome sequencing: locating causative genes in rare disorders.
Clin Genet. 2010 Jul;78(1):32-3. PubMed PMID: 20597920.

14: 
Senapathy P, Bhasi A, Mattox J, Dhandapany PS, Sadayappan S. 
Targeted genome-wide enrichment of functional regions. 
PLoS One. 2010 Jun 16;5(6):e11138. PubMed PMID: 20585402; PubMed Central PMCID: PMC2886846.

15:
Igartua C, Turner EH, Ng SB, Hodges E, Hannon GJ, Bhattacharjee A, Rieder MJ,
Nickerson DA, Shendure J. 
Targeted enrichment of specific regions in the human genome by array hybridization. 
Curr Protoc Hum Genet. 2010 Jul;Chapter 18:Unit 18.3. PubMed PMID: 20582915;
 PubMed Central PMCID: PMC2910258.

16: 
Chen JM, Férec C, Cooper DN. 
Revealing the human mutome. 
Clin Genet. 2010 May 22. [Epub ahead of print] PubMed PMID: 20569258.

17: 
Bainbridge MN, Wang M, Burgess DL, Kovar C, Rodesch MJ, D'Ascenzo M, Kitzman 
J, Wu YQ, Newsham I, Richmond TA, Jeddeloh JA, Muzny D, Albert TJ, Gibbs RA.
Whole exome capture in solution with 3 Gbp of data. 
Genome Biol. 2010;11(6):R62. Epub 2010 Jun 17. PubMed PMID: 20565776; 
PubMed Central PMCID: PMC2911110.

18: 
Lalonde E, Albrecht S, Ha KC, Jacob K, Bolduc N, Polychronakos C, Dechelotte 
P, Majewski J, Jabado N. 
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome 
revealed by next-generation exome sequencing. 
Hum Mutat. 2010 Aug;31(8):918-23. PubMed PMID: 20518025.

19: 
Criqui A, Baulande S. 
[Exome sequencing applied to monogenic disorders]. 
Med Sci (Paris). 2010 May;26(5):452-4. French. PubMed PMID: 20510136.

20: 
Khiabanian H, Van Vlierberghe P, Palomero T, Ferrando AA, Rabadan R. 
ParMap, an algorithm for the identification of small genomic insertions and 
deletions in 
nextgen sequencing data. 
BMC Res Notes. 2010 May 27;3:147. PubMed PMID: 20507604;PubMed Central PMCID:
 PMC2897800.

21: 
Rosenfeld JA, Malhotra AK, Lencz T. 
Novel multi-nucleotide polymorphisms in the human genome characterized
 by whole genome and exome sequencing. 
Nucleic Acids Res. 2010 Jun 2. [Epub ahead of print] PubMed PMID: 20488869.

22: 
Au KS, Ashley-Koch A, Northrup H. 
Epidemiologic and genetic aspects of spina bifida and other neural tube defects. 
Dev Disabil Res Rev. 2010;16(1):6-15. Review. PubMed PMID: 20419766.

23: 
Hildebrandt F. Genetic kidney diseases. 
Lancet. 2010 Apr 10;375(9722):1287-95. Review. PubMed PMID: 20382325;
 PubMed Central PMCID:PMC2898711.

24: 
Meisler MH, O'Brien JE, Sharkey LM. 
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. 
J Physiol. 2010 Jun 1;588(Pt11):1841-8. Epub 2010 Mar 29. PubMed PMID: 20351042;
 PubMed Central PMCID:PMC2901972.

25: 
Zaghloul NA, Katsanis N. 
Functional modules, mutational load and human genetic disease. 
Trends Genet. 2010 Apr;26(4):168-76. Epub 2010 Mar 11. Review.PubMed PMID: 20226561.

26: 
Summerer D, Schracke N, Wu H, Cheng Y, Bau S, Stähler CF, Stähler PF, Beier M. 
Targeted high throughput sequencing of a cancer-related exome subset 
by specific sequence capture with a fully automated microarray platform. 
Genomics. 2010 Apr;95(4):241-6. Epub 2010 Feb 6. PubMed PMID: 20138981.

27: 
Biesecker LG. 
Exome sequencing makes medical genomics a reality. 
Nat Genet. 2010 Jan;42(1):13-4. PubMed PMID: 20037612.

28: 
Hedges DJ, Burges D, Powell E, Almonte C, Huang J, Young S, Boese B, 
Schmidt M, Pericak-Vance MA, Martin E, Zhang X, Harkins TT, Züchner S. 
Exome sequencing of a multigenerational human pedigree. 
PLoS One. 2009 Dec 14;4(12):e8232. Erratum in: PLoS One. 2009;4(12). 
doi:10.1371/annotation/b0fe9dd5-16e1-4b50-b590-263518fbd5eb. Hedges, 
Dale [corrected to Hedges, Dale J]. 
PubMed PMID: 20011588; PubMed Central PMCID: PMC2788131.

29: 
Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon
PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. 
Exome sequencing identifies the cause of a mendelian disorder. 
Nat Genet. 2010 Jan;42(1):30-5. Epub 2009 Nov 13. PubMed PMID: 19915526; 
PubMed Central PMCID: PMC2847889.

30: 
Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloğlu A,
Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP. 
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. 
Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19096-101. Epub 2009 Oct 27. 
PubMed PMID:19861545; PubMed Central PMCID: PMC2768590.

31: 
Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong
M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J. 
Targeted capture and massively parallel sequencing of 12 human exomes. 
Nature. 2009 Sep 10;461(7261):272-6. Epub 2009 Aug 16. PubMed PMID: 19684571;
 PubMed Central PMCID: PMC2844771.

32: 
Maher B. 
Exome sequencing takes centre stage in cancer profiling. 
Nature. 2009 May 14;459(7244):146-7. PubMed PMID: 19444175.

33: 
Horswell SD, Ringham HE, Shoulders CC. 
New technologies for delineating and characterizing the lipid exome: prospects 
for understanding familial combined hyperlipidemia. J 
Lipid Res. 2009 Apr;50 Suppl:S370-5. Epub 2008 Nov 20. Review. PubMed PMID: 
19023136; PubMed Central PMCID: PMC2674706.

34: 
Droege M, Hill B. 
The Genome Sequencer FLX System--longer reads, more applications, straight forward 
bioinformatics and more complete data sets. 
J Biotechnol. 2008 Aug 31;136(1-2):3-10. Epub 2008 Jun 21. Review. PubMed PMID:18616967.

ついでに、Whole genome sequence で　遺伝子決めた論文

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC,  
Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL,  
Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat  
RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA.
N Engl J Med. 2010 Apr 1;362(13):1181-91. Epub 2010 Mar 10.