Results 31 to 40 of about 201,829 (351)

High quality genome-wide genotyping from archived dried blood spots without DNA amplification. [PDF]

PLoS ONE, 2013
Spots of blood are routinely collected from newborn babies onto filter paper called Guthrie cards and used to screen for metabolic and genetic disorders. The archived dried blood spots are an important and precious resource for genomic research.
Krystal R St Julien, Laura L Jelliffe-Pawlowski, Gary M Shaw, David K Stevenson, Hugh M O'Brodovich, Mark A Krasnow, Stanford BPD Study Group   +6 more
doaj   +1 more source

Evolutionary Computation-Based Memetic Algorithm Against Genetic Algorithm to Improve PCR-RFLP Assay Primers of SNP Genotyping

IEEE Access, 2018
A genetic algorithm (GA) combines the restriction enzyme mining core of single nucleotide polymorphism (SNP) restriction fragment length polymorphism (RFLP) to design polymerase chain reaction (PCR)-RFLP primer pairs for SNP-based genotyping with ...
Yu-Huei Cheng, Ching-Ming Lai, Jiashen Teh, Che-Nan Kuo   +3 more
doaj   +1 more source

Single nucleotide polymorphism genotyping in polyploid wheat with the Illumina GoldenGate assay [PDF]

, 2009
Single nucleotide polymorphisms (SNPs) are indispensable in such applications as association mapping and construction of high-density genetic maps.
A Oliphant, AG Clark, B Ewing, B Ewing, BS Weir, C Lotti, Charles Nicolet, D Gordon, DL Hyten, ED Akhunov, Eduard Akhunov, ES McFadden, FJ Steemers, G Blanc, H Kihara, International HapMap Consortium, J Dvorak, J Dvorak, J Dvorak, J Shendure, Jan Dvorak, JB Fan, K Liu, K Zhao, KS Caldwell, KS Gill, M Akbari, M Margulies, M Stephens, M Troggio, MJ Aranzana, N Rostoks, P Hardenbol, P Sarkar, Q-J Song, R Shen, RT Brumfield, S Chao, SA Flint-Garcia, SJ Macdonald, WB Barbazuk   +40 more
core   +3 more sources

A reference haplotype panel for genome-wide imputation of short tandem repeats. [PDF]

, 2018
Short tandem repeats (STRs) are involved in dozens of Mendelian disorders and have been implicated in complex traits. However, genotyping arrays used in genome-wide association studies focus on single nucleotide polymorphisms (SNPs) and do not readily ...
Fotsing, Stephanie Feupe, Gymrek, Melissa, Mitra, Ileena, Mousavi, Nima, Saini, Shubham   +4 more
core   +3 more sources

Development of a high-density sub-species-specific targeted SNP assay for Rocky Mountain bighorn sheep (Ovis canadensis canadensis) [PDF]

PeerJ
Due to their abundance and relative ease of genotyping, single nucleotide polymorphisms (SNPs) are a commonly used molecular marker for contemporary population genetic and genomic studies. A high-density and cost-effective way to type SNP loci is Allegro
Samuel Deakin, David W. Coltman
doaj   +2 more sources

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   +3 more sources

The development of a novel SNP genotyping assay to differentiate cacao clones [PDF]

, 2019
In this study, a double-mismatch allele-specific (DMAS) qPCR SNP genotyping method has been designed, tested and validated specifically for cacao, using 65 well annotated international cacao reference accessions retrieved from the Center for Forestry ...
Coppieters, Frauke, De Wever, Jocelyn, Dewettinck, Koen, Everaert, Helena, Lefever, Steve, Messens, Kathy, Rottiers, Hayley   +6 more
core   +1 more source

Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 29-36, January 2023., 2023
Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani, Emily Woods, David A. Koolen, Charlotte W. Ockeloen, Sally Ann Lynch, Karl Kavanagh, John M. Graham Jr, Katheryn Grand, Tyler Mark Pierson, Jeffrey M. Chung, Meena Balasubramanian   +10 more
wiley   +1 more source

A comparison of SNPs and microsatellites as linkage mapping markers: lessons from the zebra finch (Taeniopygia guttata) [PDF]

, 2010
Background: Genetic linkage maps are essential tools when searching for quantitative trait loci (QTL). To maximize genome coverage and provide an evenly spaced marker distribution a combination of different types of genetic marker are sometimes used.
Ball, A.D., Birkhead, T.R., Burke, T., Dawson, D.A., Slate, J., Stapley, J.   +5 more
core   +3 more sources

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy   +47 more
wiley   +1 more source