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1. Full Text Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics
by Ekta Khurana and Yao Fu and Vincenza Colonna and Xinmeng Jasmine Mu and Hyun Min Kang and Tuuli Lappalainen and Andrea Sboner and Lucas Lochovsky and Jieming Chen and Arif Harmanci and Jishnu Das and Alexej Abyzov and Suganthi Balasubramanian and Kathryn Beal and Dimple Chakravarty and Daniel Challis and Yuan Chen and Declan Clarke and Laura Clarke and Fiona Cunningham and Uday S. Evani and Paul Flicek and Robert Fragoza and Erik Garrison and Richard Gibbs and Zeynep H. Gümüş and Javier Herrero and Naoki Kitabayashi and Yong Kong and Kasper Lage and Vaja Liluashvili and Steven M. Lipkin and Daniel G. MacArthur and Gabor Marth and Donna Muzny and Tune H. Pers and Graham R. S. Ritchie and Jeffrey A. Rosenfeld and Cristina Sisu and Xiaomu Wei and Michael Wilson and Yali Xue and Fuli Yu and Emmanouil T. Dermitzakis and Haiyuan Yu and Mark A. Rubin and Chris Tyler-Smith and Mark Gerstein and 1000 Genomes Project Consortium
Science, ISSN 0036-8075, 10/2013, Volume 342, Issue 6154, pp. 84 - 84
Interpreting variants, especially noncoding ones, in the increasing number of personal genomes is challenging. We used patterns of polymorphisms in... 
RESEARCH ARTICLE SUMMARY | Genomes | GENETIC-VARIATION | ELEMENTS | TERT PROMOTER MUTATIONS | NETWORK | POSITIVE SELECTION | HUMAN-EVOLUTION | MULTIDISCIPLINARY SCIENCES | NATURAL-SELECTION | PROSTATE-CANCER | COPY NUMBER | DISEASE | Genomics | Humans | Selection, Genetic | Molecular Sequence Annotation - methods | Binding Sites - genetics | RNA, Untranslated - genetics | Genetic Variation | Neoplasms - genetics | Kruppel-Like Transcription Factors - metabolism | Polymorphism, Single Nucleotide | Mutation | Genome, Human | Population - genetics | Index Medicus
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2. Full Text Diversity of Human Copy Number Variation and Multicopy Genes
by Peter H. Sudmant and Jacob O. Kitzman and Francesca Antonacci and Can Alkan and Maika Malig and Anya Tsalenko and Nick Sampas and Laurakay Bruhn and Jay Shendure and Evan E. Eichler and 1000 Genomes Project
Science, ISSN 0036-8075, 10/2010, Volume 330, Issue 6004, pp. 641 - 646
Copy number variants affect both disease and normal phenotypic variation, but those lying within heavily duplicated, highly identical sequence have been... 
Estimate reliability | Comparative genomic hybridization | Human genome | Genetic variation | RESEARCH ARTICLES | Humans | Genes | Genetic loci | Genomes | Genetic diversity | Signatures | HUMAN GENOME | HUMAN-DISEASE | EVOLUTION | POLYMORPHISMS | CONVERSION | MULTIDISCIPLINARY SCIENCES | SEGMENTAL DUPLICATIONS | SCHIZOPHRENIA | 15Q13.3 | SELECTION | DELETION | Gene Duplication | Haplotypes | Gene Frequency | Genotype | Male | Chromosome Mapping | Gene Dosage | Continental Population Groups - genetics | Sequence Analysis, DNA | Gene Conversion | DNA Copy Number Variations | Genetic Variation | Female | Genes, Duplicate | Polymorphism, Single Nucleotide | Genome, Human | Genomics - methods | Databases, Nucleic Acid | Evolution, Molecular | Genetic research | Genetic aspects | Research | Biological diversity | Diseases | Genotype & phenotype | Estimating techniques | Population genetics | Genomics | Research methodology | Duplicating milling machines | Human | Brain | Reproduction | Genetics | Nucleotides | Conversion | Index Medicus
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3. Full Text Mapping copy number variation by population-scale genome sequencing
by Mills, Ryan E and Walter, Klaudia and Stewart, Chip and Handsaker, Robert E and Chen, Ken and Alkan, Can and Abyzov, Alexej and Yoon, Seungtai Chris and Ye, Kai and Cheetham, R. Keira and Chinwalla, Asif and Conrad, Donald F and Fu, Yutao and Grubert, Fabian and Hajirasouliha, Iman and Hormozdiari, Fereydoun and Iakoucheva, Lilia M and Iqbal, Zamin and Kang, Shuli and Kidd, Jeffrey M and Konkel, Miriam K and Korn, Joshua and Khurana, Ekta and Kural, Deniz and Lam, Hugo Y. K and Leng, Jing and Li, Ruiqiang and Li, Yingrui and Lin, Chang-Yun and Luo, Ruibang and Mu, Xinmeng Jasmine and Nemesh, James and Peckham, Heather E and Rausch, Tobias and Scally, Aylwyn and Shi, Xinghua and Stromberg, Michael P and Sütz, Adrian M and Urban, Alexander Eckehart and Walker, Jerilyn A and Wu, Jiantao and Zhang, Yujun and Zhang, Zhengdong D and Batzer, Mark A and Ding, Li and Marth, Gabor T and McVean, Gil and Sebat, Jonathan and Snyder, Michael and Wang, Jun and Ye, Kenny and Eichler, Evan E and Gerstein, Mark B and Hurles, Matthew E and Lee, Charles and McCarroll, Steven A and Korbel, Jan O and Collins, Francis S and Altshuler, D.L and Durbin, R.M and Abecasis, G.R and Bentley, D.R and Chakravarti, A and Clark, A.G and De La Vega, F.M and Donnelly, P and Egholm, M and Flicek, P and Gabriel, S.B and Gibbs, R.A and Knoppers, B.M and Lander, E.S and Lehrach, H and Mardis, E.R and McVean, G.A and Nickerson, D.A and Peltonen, L and Schafer, A.J and Sherry, S.T and Wilson, R.K and Deiros, D and Metzker, M and Muzny, D and Reid, J and Wheeler, D and Li, J and Jian, M and Li, G and Liang, H and Tian, G and Wang, B and Wang, W and Yang, H and Zhang, X and Zheng, H and Ambrogio, L and Bloom, T and Cibulskis, K and Fennell, T.J and Jaffe, D.B and ... and 1000 Genomes Project
Nature, ISSN 0028-0836, 02/2011, Volume 470, Issue 7332, pp. 59 - 65
Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in extent, origin and functional impact. Despite progress in... 
SHORT-READ | MULTIDISCIPLINARY SCIENCES | DISEASE | SEGMENTAL DUPLICATIONS | DISORDERS | COMMON | SCHIZOPHRENIA | POLYMORPHISM | REARRANGEMENTS | STRUCTURAL VARIATION | INSERTIONS | Genetics, Population | Genetic Predisposition to Disease - genetics | Reproducibility of Results | Genomics | Humans | Gene Duplication - genetics | Genotype | DNA Copy Number Variations - genetics | Sequence Analysis, DNA | Genome, Human - genetics | Mutagenesis, Insertional - genetics | Sequence Deletion - genetics | Genotype & phenotype | Algorithms | Methods | Index Medicus
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4. Full Text Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences
by Colonna, V and Ayub, Q and Chen, Y and Pagani, L and Luisi, P and Pybus, M and Garrison, E and Xue, Y and Tyler-Smith, C and Abecasis, G.R and Auton, A and Brooks, L.D and Depristo, M.A and Durbin, R.M and Handsaker, R.E and Kang, H.M and Marth, G.T and McVean, Ga and Altshuler, D.M and Durbin, R.M and Abecasis, G.R and Bentley, D.R and Chakravarti, A and Clark, A.G and Donnelly, P and Eichler, E.E and Flicek, P and Gabriel, S.B and Gibbs, R.A and Green, E.D and Hurles, M.E and Knoppers, B.M and Korbel, J.O and Lander, E.S and Lee, C and Lehrach, H and Mardis, E.R and Marth, G.T and McVean, G.A and Nickerson, D.A and Schmidt, J.P and Sherry, S.T and Wang, J and Wilson, R.K and Gibbs, R.A and Dinh, H and Kovar, C and Lee, S and Lewis, L and Muzny, D and Reid, J and Wang, M and Wang, J and Fang, X and Guo, X and Jian, M and Jiang, H and Jin, X and Li, G and Li, J and Li, Y and Li, Z and Liu, X and Lu, Y and Ma, X and Su, Z and Tai, S and Tang, M and Wang, B and Wang, G and Wu, H and Wu, R and Yin, Y and Zhang, W and Zhao, J and Zhao, M and Zheng, X and Zhou, Y and Lander, E.S and Altshuler, D.M and Gabriel, S.B and Gupta, N and Flicek, P and Clarke, L and Leinonen, R and Smith, R.E and Zheng-Bradley, X and Bentley, D.R and Grocock, R and Humphray, S and James, T and Kingsbury, Z and Lehrach, H and Sudbrak, R and Albrecht, M.W and Amstislavskiy, V.S and Borodina, T.A and Lienhard, M and Mertes, F and Sultan, M and ... and 1000 Genomes Project Consortium and The 1000 Genomes Project Consortium
Genome Biology, ISSN 1474-7596, 06/2014, Volume 15, Issue 6, pp. R88 - R88
Background: Population differentiation has proved to be effective for identifying loci under geographically localized positive selection, and has the potential... 
GENETIC-VARIATION | LIPID TRANSPORT | ZEBRAFISH | POSITIVE SELECTION | RARE | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | ICHTHYOSIS | GENETICS & HEREDITY | EYE COLOR | MAP | ASSOCIATION | PIGMENTATION | Genetic Drift | Gene Frequency | Humans | Selection, Genetic | Polymorphism, Single Nucleotide | Genome, Human | Sequence Analysis, DNA | INDEL Mutation | Index Medicus | Variació | Genètica de poblacions humanes | Genètica humana | Selecció natural | Research
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5. Full Text Low-pass genome-wide sequencing and variant inference using identity-by-descent in an isolated human population
by Gusev, A and Shah, M.J and Kenny, E.E and Ramachandran, A and Lowe, J.K and Salit, J and Lee, C.C and Levandowsky, E.C and Weaver, T.N and Doan, Q.C and Peckham, H.E and McLaughlin, S.F and Lyons, M.R and Sheth, V.N and Stoffel, M and de La Vega, F.M and Friedman, J.M and Breslow, J.L and Peer, I
Genetics, ISSN 0016-6731, 02/2012, Volume 190, Issue 2, pp. 679 - 689
Whole-genome sequencing in an isolated population with few founders directly ascertains variants from the population bottleneck that may be rare elsewhere. In... 
MODELS | GENE | GENETICS & HEREDITY | LOCI | ASSOCIATION | CAPTURE | DISCOVERY | GENOTYPE-IMPUTATION | METABOLIC TRAITS | Genome-Wide Association Study | Reproducibility of Results | Gene Frequency | Humans | Pacific Islands | Population Groups - genetics | Genotype | Founder Effect | Algorithms | Alleles | Polymorphism, Single Nucleotide | Genome, Human | Cohort Studies | Genomic structural variations | Research | Nucleotide sequencing | Population genetics | DNA sequencing | Genotype & phenotype | Genomes | Index Medicus | Investigations
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6. Full Text Peptidyl-tRNA hydrolase is involved in X inhibition of host protein synthesis
by Garcia-Villegas, M. Refugio and Garcia-Villegas, M.R and De La Vega, F.M and De La Vega, Francisco M and Galindo, José M and Galindo, J.M and Segura, M and Segura, Magdalena and Buckingham Guarneros, R.H.G and Buckingham, Richard H and Guarneros, Gabriel
EMBO Journal, ISSN 0261-4189, 1991, Volume 10, Issue 11, pp. 3549 - 3555
Peptidyl-tRNA hydrolase | Bacteriophage λ bar inhibition | Escherichia coli rap mutants Peptidyl-tRNA hydrolase | Sequence of pth | Protein synthesis inhibition | Escherichia coli rap mutants
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