Results 91 to 100 of about 219,663 (291)

Genotyping SNPs v1

, 2017
1) DNA was extracted from blood samples at DNA Chip Research Inc. 2) SNP genotyping: using the DigiTag2 assay.
Yoko Kubo, Takahiro Imaizumi, Masahiro Nakatochi, Yoshinari Yasuda, Hiroyuki Honda, Yachiyo Kuwatsuka, Sawako Kato, Kyoko Kikuchi, Takaaki Kondo, Masamitsu Iwata, Toru Nakashima, Hiroshi Yasui, Hideki Takamatsu, Hiroshi Okajima, Yasuko Yoshida, Shoichi Maruyama   +15 more
openaire   +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

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

Improving sequence-based genotype calls with linkage disequilibrium and pedigree information

, 2012
Whole and targeted sequencing of human genomes is a promising, increasingly feasible tool for discovering genetic contributions to risk of complex diseases.
Whittemore, Alice S., Zhou, Baiyu
core   +1 more source

Multiplex-Ready PCR: A new method for multiplexed SSR and SNP genotyping

BMC Genomics, 2008
Background Microsatellite (SSR) and single nucleotide polymorphism (SNP) markers are widely used in plant breeding and genomic research. Thus, methods to improve the speed and efficiency of SSR and SNP genotyping are highly desirable.
Nguyen Thao M, Hayden Matthew J, Waterman Amanda, Chalmers Kenneth J   +3 more
doaj   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

A rapid, microplate SNP genotype assay for the leptinob alleles⃞

Journal of Lipid Research, 2008
A nonsense mutation in the mouse leptin gene causes genetic obesity. As a result of extensive research in the field of obesity, the use of leptinob mice is widespread. This mutation renders mice sterile, creating the need to breed heterozygous mice.
Angie T. Oler, Alan D. Attie
doaj   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Pharmacogenetic GWAS meta-analysis of LDL cholesterol response to statins [PDF]

, 2014
Cardiolog
Barnes, MR, Consortium, GIST, Deshmukh, HA, Hitman, G, Jukema, JW, Krauss, RM, Postmus, I, Psaty, BM, Tardif, JC, Trompet, S   +9 more
core  

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source