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Results: 1 to 20 of 138

1.

Genetic variation in an individual human exome.

Ng PC, Levy S, Huang J, Stockwell TB, Walenz BP, Li K, Axelrod N, Busam DA, Strausberg RL, Venter JC.

PLoS Genet. 2008 Aug 15;4(8):e1000160. doi: 10.1371/journal.pgen.1000160.

PMID:
18704161
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians.

Shen H, Li J, Zhang J, Xu C, Jiang Y, Wu Z, Zhao F, Liao L, Chen J, Lin Y, Tian Q, Papasian CJ, Deng HW.

PLoS One. 2013;8(4):e59494. doi: 10.1371/journal.pone.0059494. Epub 2013 Apr 5.

PMID:
23577066
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes.

Goode DL, Cooper GM, Schmutz J, Dickson M, Gonzales E, Tsai M, Karra K, Davydov E, Batzoglou S, Myers RM, Sidow A.

Genome Res. 2010 Mar;20(3):301-10. doi: 10.1101/gr.102210.109. Epub 2010 Jan 12.

PMID:
20067941
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, McGee S, Do R, Liu X, Jun G, Kang HM, Jordan D, Leal SM, Gabriel S, Rieder MJ, Abecasis G, Altshuler D, Nickerson DA, Boerwinkle E, Sunyaev S, Bustamante CD, Bamshad MJ, Akey JM; Broad GO; Seattle GO; NHLBI Exome Sequencing Project.

Science. 2012 Jul 6;337(6090):64-9. doi: 10.1126/science.1219240. Epub 2012 May 17.

PMID:
22604720
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Natural genetic variation caused by small insertions and deletions in the human genome.

Mills RE, Pittard WS, Mullaney JM, Farooq U, Creasy TH, Mahurkar AA, Kemeza DM, Strassler DS, Ponting CP, Webber C, Devine SE.

Genome Res. 2011 Jun;21(6):830-9. doi: 10.1101/gr.115907.110. Epub 2011 Apr 1.

PMID:
21460062
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Analysis of genomic variation in non-coding elements using population-scale sequencing data from the 1000 Genomes Project.

Mu XJ, Lu ZJ, Kong Y, Lam HY, Gerstein MB.

Nucleic Acids Res. 2011 Sep 1;39(16):7058-76. doi: 10.1093/nar/gkr342. Epub 2011 May 19.

PMID:
21596777
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Predicting the functional effect of amino acid substitutions and indels.

Choi Y, Sims GE, Murphy S, Miller JR, Chan AP.

PLoS One. 2012;7(10):e46688. doi: 10.1371/journal.pone.0046688. Epub 2012 Oct 8.

PMID:
23056405
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Towards a comprehensive structural variation map of an individual human genome.

Pang AW, MacDonald JR, Pinto D, Wei J, Rafiq MA, Conrad DF, Park H, Hurles ME, Lee C, Venter JC, Kirkness EF, Levy S, Feuk L, Scherer SW.

Genome Biol. 2010;11(5):R52. doi: 10.1186/gb-2010-11-5-r52. Epub 2010 May 19.

PMID:
20482838
[PubMed - indexed for MEDLINE]
Free PMC Article
9.
10.

The functional spectrum of low-frequency coding variation.

Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M, Blackwell T, Zheng-Bradley X, Chen Y, Challis D, Clarke L, Ball EV, Cibulskis K, Cooper DN, Fulton B, Hartl C, Koboldt D, Muzny D, Smith R, Sougnez C, Stewart C, Ward A, Yu J, Xue Y, Altshuler D, Bustamante CD, Clark AG, Daly M, DePristo M, Flicek P, Gabriel S, Mardis E, Palotie A, Gibbs R; 1000 Genomes Project.

Genome Biol. 2011 Sep 14;12(9):R84. doi: 10.1186/gb-2011-12-9-r84.

PMID:
21917140
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Epistatic selection between coding and regulatory variation in human evolution and disease.

Lappalainen T, Montgomery SB, Nica AC, Dermitzakis ET.

Am J Hum Genet. 2011 Sep 9;89(3):459-63. doi: 10.1016/j.ajhg.2011.08.004.

PMID:
21907014
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Rare and common regulatory variation in population-scale sequenced human genomes.

Montgomery SB, Lappalainen T, Gutierrez-Arcelus M, Dermitzakis ET.

PLoS Genet. 2011 Jul;7(7):e1002144. doi: 10.1371/journal.pgen.1002144. Epub 2011 Jul 21.

PMID:
21811411
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Computational and statistical approaches to analyzing variants identified by exome sequencing.

Stitziel NO, Kiezun A, Sunyaev S.

Genome Biol. 2011 Sep 14;12(9):227. doi: 10.1186/gb-2011-12-9-227. Review.

PMID:
21920052
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

PMID:
23231371
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Predicting the effects of amino acid substitutions on protein function.

Ng PC, Henikoff S.

Annu Rev Genomics Hum Genet. 2006;7:61-80. Review.

PMID:
16824020
[PubMed - indexed for MEDLINE]
16.

A comprehensive study of small non-frameshift insertions/deletions in proteins and prediction of their phenotypic effects by a machine learning method (KD4i).

Bermejo-Das-Neves C, Nguyen HN, Poch O, Thompson JD.

BMC Bioinformatics. 2014 Apr 17;15:111. doi: 10.1186/1471-2105-15-111.

PMID:
24742296
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Small insertions and deletions (INDELs) in human genomes.

Mullaney JM, Mills RE, Pittard WS, Devine SE.

Hum Mol Genet. 2010 Oct 15;19(R2):R131-6. doi: 10.1093/hmg/ddq400. Epub 2010 Sep 21. Review.

PMID:
20858594
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

A genome-wide comparison of the functional properties of rare and common genetic variants in humans.

Zhu Q, Ge D, Maia JM, Zhu M, Petrovski S, Dickson SP, Heinzen EL, Shianna KV, Goldstein DB.

Am J Hum Genet. 2011 Apr 8;88(4):458-68. doi: 10.1016/j.ajhg.2011.03.008. Epub 2011 Mar 31.

PMID:
21457907
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.

Rees MG, Ng D, Ruppert S, Turner C, Beer NL, Swift AJ, Morken MA, Below JE, Blech I; NISC Comparative Sequencing Program, Mullikin JC, McCarthy MI, Biesecker LG, Gloyn AL, Collins FS.

J Clin Invest. 2012 Jan 3;122(1):205-17. doi: 10.1172/JCI46425. Epub 2011 Dec 19.

PMID:
22182842
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

The characterization of twenty sequenced human genomes.

Pelak K, Shianna KV, Ge D, Maia JM, Zhu M, Smith JP, Cirulli ET, Fellay J, Dickson SP, Gumbs CE, Heinzen EL, Need AC, Ruzzo EK, Singh A, Campbell CR, Hong LK, Lornsen KA, McKenzie AM, Sobreira NL, Hoover-Fong JE, Milner JD, Ottman R, Haynes BF, Goedert JJ, Goldstein DB.

PLoS Genet. 2010 Sep 9;6(9):e1001111. doi: 10.1371/journal.pgen.1001111.

PMID:
20838461
[PubMed - indexed for MEDLINE]
Free PMC Article

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