Search for new loci and low-frequency variants influencing glioma risk by exome-array analysis
暂无分享,去创建一个
Anthony Swerdlow | Jean-Yves Delattre | Yoichiro Kamatani | Markus M Nöthen | Richard S Houlston | M. Nöthen | Y. Kamatani | M. Sanson | Yufei Wang | R. Houlston | M. Lathrop | J. Schramm | A. Swerdlow | M. Schoemaker | P. Galan | S. Herms | K. Mokhtari | J. Delattre | M. Labussière | M. Simon | B. Kinnersley | Johannes Schramm | Mark Lathrop | Stefan Herms | Yufei Wang | Karima Mokhtari | Marc Sanson | Minouk J Schoemaker | Marianne Labussière | Konstantinos Gousias | Matthias Simon | Pilar Galan | Ben Kinnersley | Sarah J. Fleming | Sarah J Fleming | Stefanie Heilmann | K. Gousias | S. Heilmann | S. Fleming | M. Simon | M. Simon
[1] P. Broderick,et al. Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. , 2015, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[2] William Wheeler,et al. Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer , 2014, Nature Genetics.
[3] M. Stephens,et al. fastSTRUCTURE: Variational Inference of Population Structure in Large SNP Data Sets , 2014, Genetics.
[4] R Core Team,et al. R: A language and environment for statistical computing. , 2014 .
[5] W. Foulkes,et al. A Practical Guide to Human Cancer Genetics , 2013 .
[6] Mauricio O. Carneiro,et al. From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline , 2013, Current protocols in bioinformatics.
[7] Lihong Liu,et al. The effect of CHEK2 variant I157T on cancer susceptibility: evidence from a meta-analysis. , 2013, DNA and cell biology.
[8] Benjamin E. Gross,et al. Integrative Analysis of Complex Cancer Genomics and Clinical Profiles Using the cBioPortal , 2013, Science Signaling.
[9] Jaana M. Hartikainen,et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk , 2013, Nature Genetics.
[10] I. Adzhubei,et al. Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2 , 2013, Current protocols in human genetics.
[11] Steven A. Roberts,et al. Mutational heterogeneity in cancer and the search for new cancer-associated genes , 2013 .
[12] Damien C Weber,et al. Epidemiology of glial and non-glial brain tumours in Europe. , 2012, European journal of cancer.
[13] S. Moebus,et al. Die Heinz Nixdorf Recall Studie , 2012, Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz.
[14] G. McVean,et al. Differential confounding of rare and common variants in spatially structured populations , 2011, Nature Genetics.
[15] Xihong Lin,et al. Rare-variant association testing for sequencing data with the sequence kernel association test. , 2011, American journal of human genetics.
[16] Melissa Bondy,et al. Chromosome 7p11.2 (EGFR) variation influences glioma risk. , 2011, Human molecular genetics.
[17] A. Gonzalez-Perez,et al. Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. , 2011, American journal of human genetics.
[18] T. Walsh,et al. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome , 2011, Proceedings of the National Academy of Sciences.
[19] M. DePristo,et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.
[20] Gert Vriend,et al. Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces , 2010, BMC Bioinformatics.
[21] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[22] Daniel Rios,et al. Bioinformatics Applications Note Databases and Ontologies Deriving the Consequences of Genomic Variants with the Ensembl Api and Snp Effect Predictor , 2022 .
[23] R. McLendon,et al. IDH1 and IDH2 mutations in gliomas. , 2009, The New England journal of medicine.
[24] Melissa Bondy,et al. Genome-wide association study identifies five susceptibility loci for glioma , 2009, Nature Genetics.
[25] Alexander R. Pico,et al. Variants in the CDKN2B and RTEL1 regions are associated with high grade glioma susceptibility , 2009, Nature Genetics.
[26] K. Hemminki,et al. Familial risks in nervous-system tumours: a histology-specific analysis from Sweden and Norway. , 2009, The Lancet. Oncology.
[27] J. Uhm. IDH1 and IDH2 Mutations in Gliomas , 2009 .
[28] Frank M. Sacks,et al. IDH 1 and IDH 2 Mutations in Gliomas , 2009 .
[29] Tarik Tihan,et al. Brain tumor epidemiology: Consensus from the Brain Tumor Epidemiology Consortium , 2008, Cancer.
[30] Manuel A. R. Ferreira,et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.
[31] Naohito Yamaguchi,et al. The INTERPHONE study: design, epidemiological methods, and description of the study population , 2007, European Journal of Epidemiology.
[32] B. Scheithauer,et al. The 2007 WHO classification of tumours of the central nervous system , 2007, Acta Neuropathologica.
[33] D. Reich,et al. Population Structure and Eigenanalysis , 2006, PLoS genetics.
[34] D. Reich,et al. Principal components analysis corrects for stratification in genome-wide association studies , 2006, Nature Genetics.
[35] C. Power,et al. Cohort profile: 1958 British birth cohort (National Child Development Study). , 2006, International journal of epidemiology.
[36] Pablo Tamayo,et al. Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[37] D. Haussler,et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. , 2005, Genome research.
[38] S. Batzoglou,et al. Distribution and intensity of constraint in mammalian genomic sequence. , 2005, Genome research.
[39] Alain Favier,et al. The SU.VI.MAX Study: a randomized, placebo-controlled trial of the health effects of antioxidant vitamins and minerals. , 2004, Archives of internal medicine.
[40] D. Botstein,et al. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease , 2003, Nature Genetics.
[41] J. Kere,et al. A novel low-penetrance locus for familial glioma at 15q23-q26.3. , 2002, Cancer research.
[42] Nazneen Rahman,et al. Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations , 2002, Nature Genetics.
[43] Alison L. Livingston,et al. Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors , 2002, Nature Genetics.
[44] The Polish Breast Cancer Consortium. Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations , 2002 .
[45] S. Henikoff,et al. Predicting deleterious amino acid substitutions. , 2001, Genome research.
[46] D. Sgroi,et al. BACH1, a Novel Helicase-like Protein, Interacts Directly with BRCA1 and Contributes to Its DNA Repair Function , 2001, Cell.
[47] P. Hartge,et al. The APC I1307K allele and cancer risk in a community-based study of Ashkenazi Jews , 1998, Nature Genetics.
[48] S. Hirohashi,et al. Identification of Human Cadherin-14, a Novel Neurally Specific Type II Cadherin, by Protein Interaction Cloning* , 1997, The Journal of Biological Chemistry.
[49] T. Huh,et al. Assignment of the human mitochondrial NADP(+)-specific isocitrate dehydrogenase (IDH2) gene to 15q26.1 by in situ hybridization. , 1996, Genomics.
[50] M. Hill. A Practical Guide to Human Cancer Genetics , 1993 .
[51] R. Barnard,et al. The classification of tumours of the central nervous system. , 1982, Neuropathology and applied neurobiology.