Results 31 to 40 of about 4,615,445 (390)

On the origins of genetic variants [PDF]

FEBS Letters, 1991
Two contrasting mechanisms responsible for the creation of genetic variants are described: one is the manifestation of the limited accuracy of the cellular machinery for DNA replication, the other results from the ability of cells to repair damaged DNA.
openaire   +3 more sources

Modeling and Testing for Joint Association Using a Genetic Random Field Model [PDF]

, 2014
Substantial progress has been made in identifying single genetic variants predisposing to common complex diseases. Nonetheless, the genetic etiology of human diseases remains largely unknown.
Adler, Ballard, Besag, Besag, Browning, Burridge, Chatterjee, Cliff, Cressie, Davies, De Iorio, Gauderman, Gotze, Laird, Manolio, Molitor, Molitor, Price, Ritchie, Romeo, Rotar, Thomas, Tzeng, Wu, Wu   +24 more
core   +2 more sources

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Nucleic Acids Research, 2010
High-throughput sequencing platforms are generating massive amounts of genetic variation data for diverse genomes, but it remains a challenge to pinpoint a small subset of functionally important variants.
Kai Wang, Mingyao Li, H. Hakonarson
semanticscholar   +1 more source

Stroke genetics: prospects for personalized medicine. [PDF]

, 2012
Epidemiologic evidence supports a genetic predisposition to stroke. Recent advances, primarily using the genome-wide association study approach, are transforming what we know about the genetics of multifactorial stroke, and are identifying novel stroke ...
A Gschwendtner, A Hassan, A Helgadottir, A Helgadottir, A Joutel, A Viswanathan, AB Singleton, AJ Bowes, AV Shirodkar, B Rohrer, C Bellenguez, CAPRIE Steering Committee, CS Ku, D Sibbing, DF Gudbjartsson, DJ Klionsky, DK Wysowski, DL Bhatt, DR Holmes Jr, DS Budnitz, E Flossmann, G Paré, HC Diener, HS Markus, HS Markus, Hugh S Markus, J Hardy, JA Johnson, JB Olesen, JF Meschia, JL Mega, JN Hirschhorn, JT O'Brien, L Wang, M Dichgans, M Kubo, M Serizawa, MA Ikram, MV Holmes, P Jerrard-Dunne, P Kraft, P Polychronopoulos, PC Ng, RL Sacco, RS Epstein, S Bevan, S Gretarsdottir, S Gretarsdottir, S Lanfranconi, S Olsson, S Seshadri, S Seshadri, SE Nissen, The International Warfarin Pharmacogenetics Consortium, VG Manolopoulos, VL Roger   +55 more
core   +2 more sources

Mendelian Randomization Analysis With Multiple Genetic Variants Using Summarized Data

Genetic Epidemiology, 2013
Genome‐wide association studies, which typically report regression coefficients summarizing the associations of many genetic variants with various traits, are potentially a powerful source of data for Mendelian randomization investigations.
S. Burgess, A. Butterworth, S. Thompson
semanticscholar   +1 more source

Identifying genetic variants underlying phenotypic variation in plants without complete genomes

Nature Genetics, 2020
Structural variants and presence/absence polymorphisms are common in plant genomes, yet they are routinely overlooked in genome-wide association studies (GWAS).
Yoav Voichek, D. Weigel
semanticscholar   +1 more source

Genetic susceptibility variants in parkinsonism [PDF]

Parkinsonism & Related Disorders, 2016
Parkinsonism is an umbrella term for a group of disorders characterized by the clinical signs of tremor, bradykinesia, rigidity, and postural instability. On neuropathologic examination parkinsonism can display alternate protein pathologies (e.g. α-synucleinopathy or tauopathy) but the degeneration of nigral neurons is consistent.
Owen A. Ross, Alexandra I. Soto-Ortolaza
openaire   +3 more sources

Genetic variants associated with glaucomatous visual field loss in primary open-angle glaucoma

Scientific Reports, 2022
Primary open-angle glaucoma (POAG) is characterized by a progressive optic neuropathy with visual field loss. To investigate the genetic variants associated with visual field loss in POAG, Japanese POAG patients (n = 426) and control subjects (n = 246 ...
Fumihiko Mabuchi, Nakako Mabuchi, Yoichi Sakurada, Seigo Yoneyama, Kenji Kashiwagi, Zentaro Yamagata, Mitsuko Takamoto, Makoto Aihara, Takeshi Iwata, Kazuki Hashimoto, Kota Sato, Yukihiro Shiga, Toru Nakazawa, Masato Akiyama, Kazuhide Kawase, Mineo Ozaki, Makoto Araie   +16 more
doaj   +1 more source

Genetic determinants of co-accessible chromatin regions in activated T cells across humans. [PDF]

, 2018
Over 90% of genetic variants associated with complex human traits map to non-coding regions, but little is understood about how they modulate gene regulation in health and disease.
A Barrie, A Battle, A Franke, AA Shabalin, AM Klein, AR Quinlan, Atsede Siba, Aviv Regev, Aviva P. Aiden, B Li, BE Stranger, C Hou, Christine S. Cheng, Christophe Benoist, Chun J. Ye, CJ Ye, CK Stroud, D Hnisz, D Lee, D Sakata, DE Speiser, Dmytro Lituiev, E Elinav, E Splinter, EM Schmidt, Erez Lieberman Aiden, EZ Macosko, G Jun, G McVicker, H Kilpinen, H Li, H Li, HK Finucane, HM Kang, Howard Y. Chang, Ido Machol, Ivo Wortman, J Yang, JD Buenrostro, JD Buenrostro, JD Storey, JE Phillips, JF Degner, JN Hirschhorn, JS Delisle, K Enjyoji, Kendrick L. Hougen, KK Farh, L Chen, L Plesner, M Feuerer, M Ghandi, M Kasowski, M Kronenberg, M Kurachi, M. Grace Gordon, Marcin Tabaka, MB Gerstein, Meena Subramaniam, MI Love, MI McCarthy, Michael A. Beer, MN Lee, MT Maurano, Muhammad Shamim, MY Donath, N Kumasaka, NC Durand, Neva C. Durand, NP Restifo, P Cauchy, P Li, PC Hollenhorst, Philip L. De Jager, PM Visscher, PS Ohashi, R Satija, Rachel E. Gate, RE Thurman, RM Samstein, Roadmap Epigenomics Consortium,, S Deaglio, S Heinz, S Neph, SM Waszak, SS Rao, Su-Chen Huang, T Lappalainen, T Raj, The ENCODE Project Consortium., Ting Feng, TL Murphy, UM Marigorta, WA Whyte, WJ Astle, X Chen, X Sun, Y Belkaid, Y Zhang, YY Fan   +99 more
core   +2 more sources

Association of relative brain age with tobacco smoking, alcohol consumption, and genetic variants

Scientific Reports, 2020
Brain age is a metric that quantifies the degree of aging of a brain based on whole-brain anatomical characteristics. While associations between individual human brain regions and environmental or genetic factors have been investigated, how brain age is ...
Kaida Ning, Lu Zhao, William Matloff, Fengzhu Sun, A. Toga   +4 more
semanticscholar   +1 more source