Results 71 to 80 of about 527,601 (289)

SNP Assay Development for Linkage Map Construction, Anchoring Whole-Genome Sequence, and Other Genetic and Genomic Applications in Common Bean. [PDF]

, 2015
A total of 992,682 single-nucleotide polymorphisms (SNPs) was identified as ideal for Illumina Infinium II BeadChip design after sequencing a diverse set of 17 common bean (Phaseolus vulgaris L) varieties with the aid of next-generation sequencing ...
Cregan, Perry B, Hwang, Eun-Young, Hyten, David L, Jackson, Scott A, Jenkins, Jerry, Jia, Gaofeng, McClean, Phillip E, Osorno, Juan M, Schmutz, Jeremy, Schroeder, Steven G, Song, Qijian   +10 more
core   +1 more source

Shared Genetic Effects and Antagonistic Pleiotropy Between Multiple Sclerosis and Common Cancers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epidemiologic studies have reported inconsistent altered cancer risk in individuals with multiple sclerosis (MS). Factors such as immune dysregulation, comorbidities, and disease‐modifying therapies may contribute to this variability.
Asli Buyukkurt, Marius Ygonia, Ali Manouchehrinia, Philippe Lefrançois, Ingrid Kockum, Adil Harroud   +5 more
wiley   +1 more source

Association of Candidate Single Nucleotide Polymorphisms Related to Candidate Genes in Patients With Schizophrenia

Basic and Clinical Neuroscience, 2020
Introduction: Schizophrenia is a chronic heterogenic neurodevelopment disorder. Many genes interfere in the development of SCZ. All four genes, NrCAM, PRODH, ANK3, and ANKK1, which were evaluated in this study, were previously reported to be associated ...
Seyedeh Sara Karimian, Mohammad Taghi Akbari, Seyed Saeed Sadr, Gholamreza Javadi   +3 more
doaj  

Using GWAS Data to Identify Copy Number Variants Contributing to Common Complex Diseases

, 2010
Copy number variants (CNVs) account for more polymorphic base pairs in the human genome than do single nucleotide polymorphisms (SNPs). CNVs encompass genes as well as noncoding DNA, making these polymorphisms good candidates for functional variation ...
Teslovich, Tanya M., Zöllner, Sebastian
core   +1 more source

GenEpi: gene-based epistasis discovery using machine learning. [PDF]

, 2020
BackgroundGenome-wide association studies (GWAS) provide a powerful means to identify associations between genetic variants and phenotypes. However, GWAS techniques for detecting epistasis, the interactions between genetic variants associated with ...
Alzheimer’s Disease Neuroimaging Initiative, Chang, Yu-Chuan, Chen, Chien-Yu, Giacomini, Kathleen M, Hong, Ming-Yi, Hsieh, Ping-Han, Oyang, Yen-Jen, Tung, Yi-An, Wu, June-Tai, Yee, Sook Wah   +9 more
core  

SNP-o-matic [PDF]

Bioinformatics, 2009
Abstract Motivation: High throughput sequencing technologies generate large amounts of short reads. Mapping these to a reference sequence consumes large amounts of processing time and memory, and read mapping errors can lead to noisy or incorrect alignments. SNP-o-matic is a fast, memory-efficient and stringent read mapping tool offering
Manske, H, Kwiatkowski, D
openaire   +3 more sources

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

A novel human glucocorticoid receptor SNP results in increased transactivation potential. [PDF]

, 2017
Glucocorticoids are one of the most widely used therapeutics in the treatment of a variety of inflammatory disorders. However, it is known that there are variable patient responses to glucocorticoid treatment; there are responders and non-responders, or ...
Cho, Kiho, Green, Tajia L, Greenhalgh, David G, Leventhal, Stacey M, Lim, Debora, Tung, Kelly   +5 more
core   +3 more sources

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

BDNFVal66Met and 5-HTTLPR genotype are each associated with visual scanning patterns of faces in young children

Frontiers in Behavioral Neuroscience, 2015
Previous studies have documented both neuroplasticity-related BDNF Val66Met and emotion regulation-related 5-HTTLPR polymorphisms as genetic variants that contribute to the processing of emotions from faces. More specifically, research has shown the BDNF
Antonios I. Christou, Yvonne eWallis, Hayley eBair, Hayley eCrawford, Hayley eCrawford, Steven eFrisson, Maurice eZeegers, Joseph eMcCleery, Joseph eMcCleery   +8 more
doaj   +1 more source