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Detecting false-positive signals in exome sequencing.

Fuentes Fajardo KV, Adams D; NISC Comparative Sequencing Program, Mason CE, Sincan M, Tifft C, Toro C, Boerkoel CF, Gahl W, Markello T.

Hum Mutat. 2012 Apr;33(4):609-13. doi: 10.1002/humu.22033. Epub 2012 Mar 5.


The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.

Lawrence L, Sincan M, Markello T, Adams DR, Gill F, Godfrey R, Golas G, Groden C, Landis D, Nehrebecky M, Park G, Soldatos A, Tifft C, Toro C, Wahl C, Wolfe L, Gahl WA, Boerkoel CF.

Genet Med. 2014 Oct;16(10):741-50. doi: 10.1038/gim.2014.29. Epub 2014 May 1.


Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-K├╝ster-Hauser syndrome.

Chen MJ, Wei SY, Yang WS, Wu TT, Li HY, Ho HN, Yang YS, Chen PL.

Hum Reprod. 2015 Jul;30(7):1732-42. doi: 10.1093/humrep/dev095. Epub 2015 Apr 29.


exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.

Maranhao B, Biswas P, Duncan JL, Branham KE, Silva GA, Naeem MA, Khan SN, Riazuddin S, Hejtmancik JF, Heckenlively JR, Riazuddin SA, Lee PL, Ayyagari R.

Genomics. 2014 Feb-Mar;103(2-3):169-76. doi: 10.1016/j.ygeno.2014.02.006. Epub 2014 Mar 3.


Analysis of DNA sequence variants detected by high-throughput sequencing.

Adams DR, Sincan M, Fuentes Fajardo K, Mullikin JC, Pierson TM, Toro C, Boerkoel CF, Tifft CJ, Gahl WA, Markello TC.

Hum Mutat. 2012 Apr;33(4):599-608. doi: 10.1002/humu.22035. Epub 2012 Feb 28.


Evaluation of exome variants using the Ion Proton Platform to sequence error-prone regions.

Seo H, Park Y, Min BJ, Seo ME, Kim JH.

PLoS One. 2017 Jul 24;12(7):e0181304. doi: 10.1371/journal.pone.0181304. eCollection 2017.


Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Rodriguez-Flores JL, Fakhro K, Hackett NR, Salit J, Fuller J, Agosto-Perez F, Gharbiah M, Malek JA, Zirie M, Jayyousi A, Badii R, Al-Nabet Al-Marri A, Chouchane L, Stadler DJ, Mezey JG, Crystal RG.

Hum Mutat. 2014 Jan;35(1):105-16. doi: 10.1002/humu.22460. Epub 2013 Nov 10.


SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing.

Tariq M, Belmont JW, Lalani S, Smolarek T, Ware SM.

Genome Biol. 2011 Sep 21;12(9):R91. doi: 10.1186/gb-2011-12-9-r91.


NIH program to sequence 1,000 exomes.

[No authors listed]

Cancer Discov. 2014 Jul;4(7):OF1. doi: 10.1158/2159-8290.CD-NB2014-075. Epub 2014 May 29.


Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders.

Brown R, Lee H, Eskin A, Kichaev G, Lohmueller KE, Reversade B, Nelson SF, Pasaniuc B.

Eur J Hum Genet. 2016 Jan;24(1):113-9. doi: 10.1038/ejhg.2015.68. Epub 2015 Apr 22.


Exome-assistant: a rapid and easy detection of disease-related genes and genetic variations from exome sequencing.

Liu Q, Shen E, Min Q, Li X, Wang X, Li X, Sun ZS, Wu J.

BMC Genomics. 2012 Dec 11;13:692. doi: 10.1186/1471-2164-13-692.


Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models.

Andrews TD, Whittle B, Field MA, Balakishnan B, Zhang Y, Shao Y, Cho V, Kirk M, Singh M, Xia Y, Hager J, Winslade S, Sjollema G, Beutler B, Enders A, Goodnow CC.

Open Biol. 2012 May;2(5):120061. doi: 10.1098/rsob.120061.


VarBin, a novel method for classifying true and false positive variants in NGS data.

Durtschi J, Margraf RL, Coonrod EM, Mallempati KC, Voelkerding KV.

BMC Bioinformatics. 2013;14 Suppl 13:S2. doi: 10.1186/1471-2105-14-S13-S2. Epub 2013 Oct 1.


Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.


The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.

Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, Landis DM, Yang S, Madeo A, Mullikin JC, Boerkoel CF, Tifft CJ, Adams D.

Genet Med. 2012 Jan;14(1):51-9. doi: 10.1038/gim.0b013e318232a005. Epub 2011 Sep 26.


Exome and whole-genome sequencing for gene discovery: the future is now!

Majewski J, Rosenblatt DS.

Hum Mutat. 2012 Apr;33(4):591-2. doi: 10.1002/humu.22055. No abstract available.


Genic intolerance to functional variation and the interpretation of personal genomes.

Petrovski S, Wang Q, Heinzen EL, Allen AS, Goldstein DB.

PLoS Genet. 2013;9(8):e1003709. doi: 10.1371/journal.pgen.1003709. Epub 2013 Aug 22.


Comprehensive comparison of three commercial human whole-exome capture platforms.

Asan, Xu Y, Jiang H, Tyler-Smith C, Xue Y, Jiang T, Wang J, Wu M, Liu X, Tian G, Wang J, Wang J, Yang H, Zhang X.

Genome Biol. 2011 Sep 28;12(9):R95. doi: 10.1186/gb-2011-12-9-r95.


Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.

Lee EM, Xu K, Mosbrook E, Links A, Guzman J, Adams DR, Flynn E, Valkanas E, Toro C, Tifft CJ, Boerkoel CF, Gahl WA, Sincan M.

Genet Med. 2016 Dec;18(12):1303-1307. doi: 10.1038/gim.2016.47. Epub 2016 Jun 2.


[The application of exome sequencing in human disease].

Rao S, Du T, Xu Q.

Yi Chuan. 2014 Nov;36(11):1077-86. Review. Chinese.


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