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Items: 1 to 20 of 174

1.

From genetic discovery to future personalized health research.

Palotie A, Widén E, Ripatti S.

N Biotechnol. 2013 Mar 25;30(3):291-5. doi: 10.1016/j.nbt.2012.11.013. Epub 2012 Nov 16. Review.

2.

Human genetics and genomics a decade after the release of the draft sequence of the human genome.

Naidoo N, Pawitan Y, Soong R, Cooper DN, Ku CS.

Hum Genomics. 2011 Oct;5(6):577-622. Review.

3.
4.

What can exome sequencing do for you?

Majewski J, Schwartzentruber J, Lalonde E, Montpetit A, Jabado N.

J Med Genet. 2011 Sep;48(9):580-9. doi: 10.1136/jmedgenet-2011-100223. Epub 2011 Jul 5. Review.

PMID:
21730106
5.

Challenges in medical applications of whole exome/genome sequencing discoveries.

Marian AJ.

Trends Cardiovasc Med. 2012 Nov;22(8):219-23. doi: 10.1016/j.tcm.2012.08.001. Epub 2012 Aug 24. Review.

6.

Next generation sequencing and rare genetic variants: from human population studies to medical genetics.

Matullo G, Di Gaetano C, Guarrera S.

Environ Mol Mutagen. 2013 Aug;54(7):518-32. doi: 10.1002/em.21799. Epub 2013 Aug 6. Review.

PMID:
23922201
7.

The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.

Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA; Centers for Mendelian Genomics.

Am J Med Genet A. 2012 Jul;158A(7):1523-5. doi: 10.1002/ajmg.a.35470. Epub 2012 May 24.

8.

The discovery of human genetic variations and their use as disease markers: past, present and future.

Ku CS, Loy EY, Salim A, Pawitan Y, Chia KS.

J Hum Genet. 2010 Jul;55(7):403-15. doi: 10.1038/jhg.2010.55. Epub 2010 May 20. Review.

PMID:
20485443
9.
10.

Design considerations for genetic linkage and association studies.

Nsengimana J, Bishop DT.

Methods Mol Biol. 2012;850:237-62. doi: 10.1007/978-1-61779-555-8_13.

PMID:
22307702
11.

[Development of antituberculous drugs: current status and future prospects].

Tomioka H, Namba K.

Kekkaku. 2006 Dec;81(12):753-74. Review. Japanese.

PMID:
17240921
12.

BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge.

Moore CB, Wallace JR, Frase AT, Pendergrass SA, Ritchie MD.

BMC Med Genomics. 2013;6 Suppl 2:S6. doi: 10.1186/1755-8794-6-S2-S6. Epub 2013 May 7.

13.

Molecular genetic studies of complex phenotypes.

Marian AJ.

Transl Res. 2012 Feb;159(2):64-79. doi: 10.1016/j.trsl.2011.08.001. Epub 2011 Aug 31. Review.

14.

The HapMap and genome-wide association studies in diagnosis and therapy.

Manolio TA, Collins FS.

Annu Rev Med. 2009;60:443-56. doi: 10.1146/annurev.med.60.061907.093117. Review.

15.

Whole-genome and whole-exome sequencing in neurological diseases.

Foo JN, Liu JJ, Tan EK.

Nat Rev Neurol. 2012 Sep;8(9):508-17. doi: 10.1038/nrneurol.2012.148. Epub 2012 Jul 31. Review.

PMID:
22847385
16.

Implementing genomic medicine in pathology.

Williams ES, Hegde M.

Adv Anat Pathol. 2013 Jul;20(4):238-44. doi: 10.1097/PAP.0b013e3182977199. Review.

PMID:
23752086
17.

Assessing the effect of sequencing depth and sample size in population genetics inferences.

Fumagalli M.

PLoS One. 2013 Nov 18;8(11):e79667. doi: 10.1371/journal.pone.0079667. eCollection 2013.

18.

The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care.

Bowdin S, Ray PN, Cohn RD, Meyn MS.

Hum Mutat. 2014 May;35(5):513-9. doi: 10.1002/humu.22536. Epub 2014 Apr 7. Review.

PMID:
24599881
19.

Clan genomics and the complex architecture of human disease.

Lupski JR, Belmont JW, Boerwinkle E, Gibbs RA.

Cell. 2011 Sep 30;147(1):32-43. doi: 10.1016/j.cell.2011.09.008.

20.

Ethical and legal implications of whole genome and whole exome sequencing in African populations.

Wright GE, Koornhof PG, Adeyemo AA, Tiffin N.

BMC Med Ethics. 2013 May 28;14:21. doi: 10.1186/1472-6939-14-21.

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