Results 101 to 110 of about 223,459 (323)

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA) [PDF]

, 2009
Background: In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and ...
A Allavena, A Antoniou, A B Spurdle, A C Antoniou, A E Toland, A K Godwin, A Meindl, A Miron, A Osorio, A Osorio, A van den Ouweland, A Viel, A-C Spiess, A-M Gerdes, AC Antoniou, AC Antoniou, B Arver, B Fiebig, B Kaufman, B Malmer, B Versmold, C Casella, C Cassini, C Engel, C F Singer, C I Szabo, C Kiyohara, C Luccarini, C T Oliver, D F Easton, D Ford, D Frost, D G Cruger, D G Evans, D Goldgar, D Gschwantler-Kaulich, D Muller, D Niederacher, D Schaefer, D Stoppa-Lyonnet, D Yannoukakos, DF Easton, DF Easton, E Dagan, E Friedman, E M John, E N Imyanitov, EB Gómez García, F B L Hogervorst, F Douglas, F J Couch, F Lalloo, F Lejbkowicz, F Révillion, G C Rodriguez, G Chenevix-Trench, G Chenevix-Trench, G Pfeiler, G Pichert, G Pita, G Rennert, H Deißler, H Jernström, H Nevanlinna, H Ozcelik, H T Lynch, I L Andrulis, J Basil, J Beesley, J Benítez, J Brunet, J Cook, J F Boggess, J L Hopper, J Simard, J T Wijnen, J-P Fricker, J-P Peyrat, K Claes, K Kosarin, K L Nathanson, K Lange, K Offit, K Wakeley, L Barjhoux, L Foretova, L McGuffog, L Olivier-Faivre, L Tizzoni, LE Mechanic, M A Caligo, M B Terry, M Barile, M Cook, M Daly, M de la Hoya, M Garcia-Closas, M H Greene, M Montagna, M Piedmonte, M S Askmalm, M Thomassen, M Zikan, MM Gaudet, N Arnold, N Ditsch, N Lindor, N Weerasooriya, O Barnett-Griness, O M Sinilnikova, O T Johannsson, P E Schwartz, P J Morrison, P Mai, P Peterlongo, P Radice, R Eeles, R Gershoni-Baruch, R K Schmutzler, R L Milne, R Varon-Mateeva, RL Milne, RL Milne, S Buys, S Chen, S Cohen, S Giraud, S Healey, S Hodgson, S Hooker, S L Neuhausen, S M Domchek, S Manoukian, S Peock, S V Blank, S Verhoef, T Caldes, T Heikkinen, T Kirchhoff, T Kontorovich, T Ramón y Cajal, Thomas v O Hansen, TR Smith, U G Froster, U Hamann, V Moncoutier, V Moreno, X Chen, X Wang, Y C Ding, Y Laitman, Y Yassin   +151 more
core   +4 more sources

CNV discovery using SNP genotyping arrays

Cytogenetic and Genome Research, 2008
Genome-wide single nucleotide polymorphism (SNP) genotyping platforms have made an important contribution to population genetics and genetic epidemiology. Recently there has been a realisation that these SNP platforms can also be used for typing copy number variants (CNVs).
Yau, C, Holmes, C
openaire   +3 more sources

Cancer‐Like Fragmentomic Characteristics of Somatic Variants in Cell‐Free DNA

Advanced Science, EarlyView.
We report that in non‐cancerous subjects, cell‐free (cfDNA) molecules harboring somatic variants exhibit cancer‐like fragmentomic characteristics associated with clonal hematopoiesis. Importantly, these somatic variant‐associated fragmentomic aberrations are more pronounced in cancer patients. Leveraging such somatic variant‐associated signals in cfDNA,
Zhenyu Zhang, Yunyun An, Mengqi Yang, Yuqi Pan, Xiaoyi Liu, Fanglei Gong, Huizhen Lin, Bianbian Tang, Yunxia Bai, Xin Zhao, Yu Zhao, Changzheng Du, Kun Sun   +12 more
wiley   +1 more source

A rapid, microplate SNP genotype assay for the leptinob alleles⃞

Journal of Lipid Research, 2008
A nonsense mutation in the mouse leptin gene causes genetic obesity. As a result of extensive research in the field of obesity, the use of leptinob mice is widespread. This mutation renders mice sterile, creating the need to breed heterozygous mice.
Angie T. Oler, Alan D. Attie
doaj   +1 more source

Meta‐GWAS of Pig Semen Quality Traits Reveals Conserved Genes Regulating Mammalian Fertility

Advanced Science, EarlyView.
This study incorporated 14 210 individuals to perform a GWAS meta‐analysis of six semen quality traits. The GWAS meta‐analysis identifies 234 GWAS loci associated with semen quality traits. The incorporation with a functional genomics resource explains potential genetic regulation of ∼40% GWAS signals underlying semen quality traits.
Qing Lin, Xiaodian Cai, Zhanming Zhong, Tingting Li, Xinyou Chen, Wondossen Ayalew, Zhiting Xu, Chen Wei, Xiaoke Zhang, Hong Cheng, Zhenyang Zhang, Xuehua Li, Yongjie Tang, Siqian Chen, Jun Zhou, Jinglei Si, Xibo Wu, Chao Ning, Qishan Wang, Yuchun Pan, Yahui Gao, Jiaqi Li, Ying Yu, Zhe Zhang, Yunxiang Zhao, Lingzhao Fang, Zhe Zhang   +26 more
wiley   +1 more source

High-Throughput SNP Genotyping: Combining Tag SNPs and Molecular Beacons [PDF]

, 2009
In the last decade, molecular beacons have emerged to become a widely used tool in the multiplex typing of single nucleotide polymorphisms (SNPs). Improvements in detection technologies in instrumentation and chemistries to label these probes have made it possible to use up to six spectrally distinguishable probes per reaction well. With the remarkable
Barreiro, Luis B., Henriques, Ricardo, Mhlanga, Musa M.   +2 more
openaire   +2 more sources

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Improving sequence-based genotype calls with linkage disequilibrium and pedigree information

, 2012
Whole and targeted sequencing of human genomes is a promising, increasingly feasible tool for discovering genetic contributions to risk of complex diseases.
Whittemore, Alice S., Zhou, Baiyu
core   +1 more source

Modern and Ancient Genomes Reveal Neolithic Paternal Expansions of Millet and Rice Farmers and Demic Diffusion from China into Mainland Southeast Asia

Advanced Science, EarlyView.
This study clarifies the genetic patterns of paternal lineages across East Asia and Mainland Southeast Asia. Han populations are relatively homogeneous, whereas southern ethnolinguistic minorities display regional structures. Shared Y‐chromosome lineages indicate Neolithic expansions and extensive north‐south gene flow, supporting demic diffusion ...
Yunhui Liu, Lintao Luo, Yutong Jiang, Minzhu Zhao, Ting Yang, Zhiyong Wang, Lisiteng Luo, Yuhang Feng, Zihao Zhu, Yuzhu Wang, Limei Zhang, Bofeng Zhu, Chao Liu, Renkuan Tang, Mengge Wang, Guanglin He   +15 more
wiley   +1 more source

Nucleic acid amplification-based HER2I655V molecular detection for breast cancer

Journal of Oncological Sciences, 2019
Single Nucleotide Polymorphism at codon 655 of HER2 gene has been extensively evaluated for its role as a susceptible biomarker for breast cancer development and the contradictive result of its role has been a debate among researchers as evidenced from ...
Bugi Ratno Budiarto, Pimpin Utama Pohan, Desriani   +2 more
doaj   +1 more source