Results 121 to 130 of about 219,632 (346)

SNiPlay: a web-based tool for detection, management and analysis of SNP (C900) [PDF]

, 2011
The rapidly increasing amount of re-sequencing and genotyping data generated by large-scale genetic diversity projects requires the development of integrated bioinformatics tools able to efficiently manage, analyze, and combine genetic data with the ...
Bacilieri, Roberto, Carrier, Gregory, Dereeper, Alexis, Doligez, Agnès, Le Cunff, Loïc, Nicolas, Stéphane, Péros, Jean-Pierre, Ruiz, Manuel, This, Patrice   +8 more
core  

Genetic Contribution to Asthma Informs Acute Chest Syndrome Pathophysiology and Risk Stratification

American Journal of Hematology, EarlyView.
ABSTRACT Acute chest syndrome (ACS) is a severe complication of sickle cell disease (SCD) occurring in ~50% of patients, some presenting frequent episodes. We lack tools to identify patients at high risk of ACS occurrence or frequent episodes. Epidemiological studies have found an association between asthma and ACS, but whether this link is causal is ...
Sara El Aouhel, Vanessa Bellegarde, Stennio Da Silva Faria, Tristan St‐Laurent, Estelle Lecluze, Anne‐Laure Pham Hung d’Alexandry d’Orengiani, Frédéric Galactéros, Pablo Bartolucci, Marc‐André Legault, Guillaume Lettre, Thomas Pincez   +10 more
wiley   +1 more source

Combining genotyping approaches improves resolution for association mapping: a case study in tropical maize under water stress conditions

Frontiers in Plant Science
Genome-wide Association Studies (GWAS) identify genome variations related to specific phenotypes using Single Nucleotide Polymorphism (SNP) markers. Genotyping platforms like SNP-Array or sequencing-based techniques (GBS) can genotype samples with many ...
Fernanda Carla Ferreira de Pontes, Ingrid Pinheiro Machado, Maria Valnice de Souza Silveira, Antônio Lucas Aguiar Lobo, Felipe Sabadin, Roberto Fritsche-Neto, Júlio César DoVale   +6 more
doaj   +1 more source

The Longitudinal Effect of APOL1 Risk Alleles on Sickle Cell Anemia‐Associated Kidney Function

American Journal of Hematology, EarlyView.
ABSTRACT Progressive kidney injury is a major cause of morbidity and mortality in sickle cell anemia (SCA). The high risk APOL1 G1/G2 variants contribute to the development of kidney disease in individuals of African ancestry, including those with SCA.
Sara R. Rashkin, Guolian Kang, Clifford M. Takemoto, Mitchell J. Weiss, Kenneth I. Ataga, Santosh L. Saraf, Jeffrey Lebensburger, Rima S. Zahr   +7 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Highly-multiplexed SNP genotyping for genetic mapping and germplasm diversity studies in pea

BMC Genomics, 2010
Background Single Nucleotide Polymorphisms (SNPs) can be used as genetic markers for applications such as genetic diversity studies or genetic mapping. New technologies now allow genotyping hundreds to thousands of SNPs in a single reaction.
Deulvot Chrystel, Charrel Hélène, Marty Amandine, Jacquin Françoise, Donnadieu Cécile, Lejeune-Hénaut Isabelle, Burstin Judith, Aubert Grégoire   +7 more
doaj   +1 more source

PROBAND: SNP genotyping and ApoE genotyping v1

, 2021
A protocol for genotyping and assigning ApoE status in the Tracking Parkinson's (PROBAND) study
openaire   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

SNP high-throughput screening in grapevine using the SNPlex™ genotyping system

BMC Plant Biology, 2008
Background Until recently, only a small number of low- and mid-throughput methods have been used for single nucleotide polymorphism (SNP) discovery and genotyping in grapevine (Vitis vinifera L.).
Velasco Riccardo, Zharkikh Andrey, Cartwright Dustin A, Coppola Giuseppina, Vezzulli Silvia, Pindo Massimo, Troggio Michela   +6 more
doaj   +1 more source

Molecular Profiling of Genes Associated With Methylphenidate Pathway Therapy and Discovery of New Variants in Amazonian Amerindian Populations

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In Attention Deficit Hyperactivity Disorder (ADHD), methylphenidate is one of the most widely used drugs, in which patient response significantly impacts prognosis. This study aimed to characterize the molecular profile of 10 genes associated with methylphenidate therapy.
Aline Pasquini Santos, Tatiane Carinta de Souza, Kaio Evandro Cardoso Aguiar, Ana Caroline Alves da Costa, Natasha Monte, Juliana Carla Gomes Rodrigues, Giovanna Gilioli da Costa Nunes, Rita de Cássia Calderaro Coelho, Ândrea Ribeiro‐dos‐Santos, André Maurício Ribeiro dos Santos, Sandro José de Souza, Sidney Emanuel Batista dos Santos, Rommel Mario Rodriguez Burbano, Marianne Rodrigues Fernandes, Ney Pereira Carneiro dos Santos   +14 more
wiley   +1 more source