Results 71 to 80 of about 223,459 (323)

Improved Imputation of Common and Uncommon Single Nucleotide Polymorphisms (SNPs) with a New Reference Set [PDF]

, 2011
Statistical imputation of genotype data is an important technique for analysis of genome-wide association studies (GWAS). We have built a reference dataset to improve imputation accuracy for studies of individuals of primarily European descent using ...
Amy Hutchinson, Ann W. Hsing, Brian E. Henderson, Charles C. Chung, Christopher M. Haiman, Daniel Stram, Demetrius Albanes, Jarmo Virtamo, Jennifer L. Stone, Joshua Sampson, Kevin Jacobs, Lauren R. Teras, Margaret Tucker, Mark P. Purdue, Meredith Yeager, Michael A. Eberle, Nilanjan Chatterjee, Phil Taylor, Sonja I. Berndt, Stephen Chanock, Susan M. Gabstur, W. Ryan Diver, Xiang Deng, Zhaoming Wang   +23 more
core   +2 more sources

Integrated Transcriptomics Reveals Evolutionary Trajectories and Cell Density‐Dependent Mechanisms in Aldosterone‐Producing Adenomas

Advanced Science, EarlyView.
Aldosterone‐producing adenomas (APAs) develop via two distinct paths: directly from adrenal zona glomerulosa (zG) cells, or stepwise from zG cells through aldosterone‐producing micronodules (APMs) before progressing to APAs. Advanced single‐cell and spatial analyses identified distinct cell states linked to oxidative stress and cell–cell interactions ...
Zhuolun Sun, Changying Jing, Martina Tetti, Siyuan Gong, Jia Wei, Yingxian Pang, Martin Reincke, Tracy Ann Williams   +7 more
wiley   +1 more source

Silhouette scores for assessment of SNP genotype clusters

BMC Genomics, 2005
Background High-throughput genotyping of single nucleotide polymorphisms (SNPs) generates large amounts of data. In many SNP genotyping assays, the genotype assignment is based on scatter plots of signals corresponding to the two SNP alleles. In a robust
Jonsson Mats, Ahlford Annika, Lovmar Lovisa, Syvänen Ann-Christine   +3 more
doaj   +1 more source

Leveraging local identity-by-descent increases the power of case/control GWAS with related individuals

, 2014
Large case/control Genome-Wide Association Studies (GWAS) often include groups of related individuals with known relationships. When testing for associations at a given locus, current methods incorporate only the familial relationships between ...
Li, Peng, Sampson, Joshua N., Shi, Jianxin, Wheeler, Bill   +3 more
core   +1 more source

Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage. [PDF]

, 2019
One fundamental but understudied mechanism of gene regulation in disease is allele-specific expression (ASE), the preferential expression of one allele.
A Chess, A de la Chapelle, A Gimelbrant, A Hogart, A McKenna, A Mortazavi, AA Adegbola, AL Oberg, AM Veerappa, B DeVeale, B Howie, B Langmead, B Tycko, C Fuchsberger, C Gicquel, C Gregg, C Lee, CA de Leeuw, CCY Wong, Changhoon Lee, Cross-Disorder Group of the Psychiatric Genomics Consortium., D Kim, Daniel H. Geschwind, DH Geschwind, E Ben-David, E Eden, E Eden, E Gardiner, EH Cook Jr., Eleazar Eskin, EM Quinn, Eun Yong Kang, EY Kang, F Supek, GT Consortium, GV Kryukov, H Li, HA Scoles, I Iossifov, I Voineagu, J Cavaille, J Cavaille, J Grove, JC Darnell, JF Degner, JK Pickrell, KR Kukurba, M Elsabbagh, M Meguro-Horike, Michael J. Gandal, N Mukherjee, NN Parikshak, NN Parikshak, PH Sudmant, PS Bazeley, R Karlic, S Anders, S Kehr, S Kishore, S Nardone, S Purcell, Schizophrenia Working Group of the Psychiatric Genomics Consortium., SE Castel, SJ Sanders, SM Weyn-Vanhentenryck, T Hulsen, V Savova, Y Zhang, YE Wu   +68 more
core   +1 more source

SNP GENOTYPING IN TETRAPLOID CUT ROSES

Acta Horticulturae, 2012
Genetic analysis in tetraploid rose is complex: inheritance of genes could be disomic, keeping the two original diploid genomes separate but it could also be tetrasomic, permitting the four homologous chromosomes to pair and recombine during meiosis, and including the possibility of double reduction.
Koning-Boucoiran, C.F.S., Smulders, M.J.M., Krens, F.A., Esselink, G.D., Maliepaard, C.A.   +4 more
openaire   +2 more sources

PARPi Combining Nanoparticle LIN28B siRNA for the Management of Malignant Ascites

Advanced Science, EarlyView.
This study demonstrates that co‐inhibition of LIN28B and PARP using siLin28b/DSSP@lip‐PEG‐FA nanoparticles in combination with the PARP inhibitor BMN673 effectively suppresses the accumulation of malignant ascites associated with advanced cancers.
Yan Fang, Qian Shen, Yao Lin, Jing Zhu, Xiaolan Zhu, Rui Huang, Yijia Wu, Feiyang Shen, Qian Li, Guopei Zheng, Zhe Zhang, Qian Chu, Junhao Hu, Jianfeng Shen   +13 more
wiley   +1 more source

The Invader® assay for SNP genotyping [PDF]

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2005
The Invader assay uses a structure-specific flap endonuclease (FEN) to cleave a three-dimensional complex formed by hybridization of allele-specific overlapping oligonucleotides to target DNA containing a single nucleotide polymorphism (SNP) site. Annealing of the oligonucleotide complementary to the SNP allele in the target molecule triggers the ...
openaire   +2 more sources

Genomics Insights Into High‐Latitude Adaptation of Tibetan Macaques

Advanced Science, EarlyView.
Tibetan macaques exhibit unique adaptations to cold, high‐latitude environments, including shortened tails and enhanced fat storage. Genomic analyses reveal a species‐specific TBX6 mutation linked to tail reduction and selection on lipid metabolism genes.
Rusong Zhang, Ying Hu, Yang Teng, Jiwei Qi, Yangzhen Ciren, Lin Zhang, Qiao Du, Wencai Xu, Liang Zhou, Zhenxin Fan, Jinchuan Xing, Ming Li, Jing Li   +12 more
wiley   +1 more source

Genotyping by multiplexed sequencing (GMS): A customizable platform for genomic selection.

PLoS ONE, 2020
As genotyping technologies continue to evolve, so have their throughput and multiplexing capabilities. In this study, we demonstrate a new PCR-based genotyping technology that multiplexes thousands of single nucleotide polymorphism (SNP) markers with ...
Travis M Ruff, Elliott J Marston, Jonathan D Eagle, Sajal R Sthapit, Marcus A Hooker, Daniel Z Skinner, Deven R See   +6 more
doaj   +1 more source