Search Results - "1000 Genomes Project"

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation by Artigas, María Soler, Wain, Louise V., Miller, Suzanne, Kheirallah, Abdul Kader, Huffman, Jennifer E., Ntalla, Ioanna, Shrine, Nick, Obeidat, Ma’en, Trochet, Holly, McArdle, Wendy L., Alves, Alexessander Couto, Hui, Jennie, Zhao, Jing Hua, Joshi, Peter K., Teumer, Alexander, Albrecht, Eva, Imboden, Medea, Rawal, Rajesh, Lopez, Lorna M., Marten, Jonathan, Enroth, Stefan, Surakka, Ida, Polasek, Ozren, Lyytikäinen, Leo-Pekka, Granell, Raquel, Hysi, Pirro G., Flexeder, Claudia, Mahajan, Anubha, Beilby, John, Bossé, Yohan, Brandsma, Corry-Anke, Campbell, Harry, Gieger, Christian, Gläser, Sven, González, Juan R., Grallert, Harald, Hammond, Chris J., Harris, Sarah E., Hartikainen, Anna-Liisa, Heliövaara, Markku, Henderson, John, Hocking, Lynne, Horikoshi, Momoko, Hutri-Kähönen, Nina, Ingelsson, Erik, Johansson, Åsa, Kemp, John P., Kolcic, Ivana, Kumar, Ashish, Lind, Lars, Melén, Erik, Musk, Arthur W., Navarro, Pau, Nickle, David C., Padmanabhan, Sandosh, Raitakari, Olli T., Ried, Janina S., Ripatti, Samuli, Schulz, Holger, Scott, Robert A., Sin, Don D., Starr, John M., Deloukas, Panos, Hansell, Anna L., Hubbard, Richard, Jackson, Victoria E., Marchini, Jonathan, Pavord, Ian, Thomson, Neil C., Zeggini, Eleftheria, Viñuela, Ana, Völzke, Henry, Wild, Sarah H., Wright, Alan F., Zemunik, Tatijana, Jarvis, Deborah L., Spector, Tim D., Evans, David M., Lehtimäki, Terho, Vitart, Veronique, Kähönen, Mika, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J., Karrasch, Stefan, Probst-Hensch, Nicole M., Heinrich, Joachim, Stubbe, Beate, Wilson, James F., Wareham, Nicholas J., James, Alan L., Morris, Andrew P., Jarvelin, Marjo-Riitta, Hayward, Caroline, Sayers, Ian, Strachan, David P., Hall, Ian P., Tobin, Martin D.

“…In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (phase 1)-imputed genotypes and followed up top associations in 54,550 Europeans. …”
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A map of human genome variation from population-scale sequencing by Tumian, Afidalina

“…The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. …”
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Pulling out the 1%: Whole-Genome Capture for the Targeted Enrichment of Ancient DNA Sequencing Libraries by Carpenter, M., Buenrostro, J., Valdiosera, C., Schroeder, H., Allentoft, M., Sikora, M., Rasmussen, M., Gravel, S., Guillen, S., Nekhrizov, G., Leshtakov, K., Dimitrova, D., Theodossiev, N., Petterner, D., Luiselli, D., Sandoval, K., Moreno-Estrada, A., Li, Y., Wang, Jun, Gilbert, Thomas, Willerslev, E., Greenleaf, W., Bustamante, C.

“…Intersection with the 1000 Genomes Project reference panel yielded an average of 50,723 SNPs (range 3,062–147,243) for the postcapture libraries sequenced with 1 million reads, compared with 13,280 SNPs (range 217–73,266) for the precapture libraries, increasing resolution in population genetic analyses. …”
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Inferring mechanisms of copy number change from haplotype structures at the human DEFA1A3 locus by Black, Holly A., Khan, Fayeza F., Tyson, Jess, Armour, John A.L.

“…Assigning DEFA1A3 class to haplotypes within the 1000 Genomes project highlights a significant difference in DEFA1A3 class frequencies between populations with different ancestry. …”
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RNA-Seq in 296 phased trios provides a high-resolution map of genomic imprinting by Jadhav, B., Monajemi, R., Gagalova, Kristina, Ho, D., Draisma, H.H.M., Van De Wiel, M.A., Franke, L., Heijmans, B.T., Van Meurs, J., Jansen, R., T'Hoen, P.A.C., Sharp, A.J., Kiełbasa, S.M.

“…Results: We report findings in 296 family trios from two large studies: 165 lymphoblastoid cell lines from the 1000 Genomes Project and 131 blood samples from the Genome of the Netherlands (GoNL) participants. …”
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Novel single nucleotide polymorphism (SNP) interactions within the TG and TSHR gene in a multiplex Malay family with Graves’ disease: A preliminary report by Shahar, Mohammad Arif, Saud Gany, Siti Liyana, Long, Ka Ching, Azizan, Elena, Omar, Ahmad Marzuki, Sukor, Norlela, Kamaruddin, Nor Azmi

“…Of these variants, 95.93% were represented in dbSNP and 92.92% were annotated in the 1000 Genomes Project database. The number of novel SNPs was 2,098. …”
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Genome-wide association study to identify genetic determinants of severe asthma by Wan, Y.I., Shrine, N.R.G., Soler Artigas, M., Wain, L.V., Blakey, J.D., Moffatt, M.F., Bush, A., Chung, K. F., Cookson, W.O.C.M., Strachan, D.P., Heaney, L., Al-Momani, B.A.H., Mansur, A.H., Manney, S., Thomson, N.C., Chaudhuri, R., Brightling, C.E., Bafadhel, M., Singapuri, A., Niven, R., Simpson, A., Holloway, J.W., Howarth, P.H., Hui, J., Musk, A.W., James, A.L., Brown, M.A., Baltic, S., Ferreira, M.A.R., Thompson, P.J., Tobin, M.D., Sayers, Ian, Hall, Ian P.

“…To improve the resolution of the association signals identified, non-genotyped SNPs were imputed in these regions using a dense reference panel of SNP genotypes from the 1000 Genomes Project. Then replication of SNPs of interest was undertaken in a further 231 cases and 1345 controls and a meta-analysis was performed to combine the results across studies. …”
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Next generation sequencing of CLU, PICALM and CR1: pitfalls and potential solutions by Lord, Jenny, Turton, James, Medway, Christopher, Shi, Hui, Brown, Kristelle, Lowe, James, Mann, David, Pickering-Brown, Stuart, Kalsheker, Noor, Passmore, Peter, Morgan, Kevin

“…A strong positive correlation (0.964, p<0.001) was seen between NGS and 1000 genome project frequency estimates. Of the ~170 “novel” variants detected in the genes, seven SNPs, all of which were present in multiple sample pools, were selected for validation by Sanger sequencing. …”
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Functional Analysis of a Carotid Intima-Media Thickness Locus Implicates BCAR1 and Suggests a Causal Variant by Boardman-Pretty, F., Smith, A., Cooper, J., Palmen, J., Folkersen, L., Hamsten, A., Catapano, A., Melander, O., Price, J., Kumari, M., Deanfield, J., Kivimäki, M., Gertow, K., Baragetti, A., Norata, Giuseppe, Humphries, S.

“…Two hundred fourteen noncoding variants in strong linkage disequilibrium (r 2 =0.8) with rs4888378 were identified from 1000 Genome Project. ENCODE regulatory chromatin marks were used to create a shortlist of 6 possible regulatory variants. …”
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