Results 151 to 160 of about 74,278 (259)

Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array [PDF]

, 2015
Santiago Rodrı́guez, Tom R. Gaunt, Yiran Guo, Jie Zheng, Michael R. Barnes, Weihang Tang, Fazal-I-Akbar Danish, Andrew D. Johnson, Berta Almoguera Castillo, Leslie A. Lange, Håkon Håkonarson, Sarah G. Buxbaum, Tom Palmer, Michael Y. Tsai, Leslie A. Lange, Shah Ebrahim, George Davey Smith, Debbie A. Lawlor, Aaron R. Folsom, Ron C. Hoogeveen, Alex P. Reiner, Brendan J. Keating, Ian N.M. Day   +22 more
openalex   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Identification of KASP markers and candidate genes for drought tolerance in wheat using 90K SNP array genotyping of near-isogenic lines targeting a 4BS quantitative trait locus. [PDF]

Theor Appl Genet, 2023
Liu G, Liu D, Zhang A, Liu H, Mia MS, Mullan D, Yan G.   +6 more
europepmc   +1 more source

Genetic association of candidate genes with milk and mastitis resistance traits using SNP-Chip array in Holstein Friesian and Pakistani indigenous dairy cattle breeds

openalex   +1 more source

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, EarlyView.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

IMAGE001: A new livestock multispecies SNP array to characterize genomic variation in European livestock gene bank collections. [PDF]

Anim Genet
Crooijmans RPMA, Gonzalez Prendes R, Colli L, Del Corvo M, Barbato M, Somenzi E, Tosser-Klopp G, Meszaros G, Ajmone-Marsan P, Weigend S, Wallner B, McCue ME, Orlando L, Bradley D, Hiemstra SJ, Schokker D, Peynot N, Stella A, Restoux G, Groenen MAM, Tixier-Boichard M.   +20 more
europepmc   +1 more source

Development of a High-Density 665 K SNP Array for Rainbow Trout Genome-Wide Genotyping. [PDF]

Front Genet, 2022
Bernard M, Dehaullon A, Gao G, Paul K, Lagarde H, Charles M, Prchal M, Danon J, Jaffrelo L, Poncet C, Patrice P, Haffray P, Quillet E, Dupont-Nivet M, Palti Y, Lallias D, Phocas F.   +16 more
europepmc   +1 more source

OpenADAM: an open source genome-wide association data management system for Affymetrix SNP arrays [PDF]

, 2008
Juilian M. Y. Yeung, Pak C. Sham, Allen Chan, Stacey S. Cherny   +3 more
openalex   +1 more source

FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype

Clinical Genetics, EarlyView.
FAM20B encodes glycosaminoglycan xylosylkinase, a key enzyme in proteoglycan biosynthesis. We report compound heterozygous FAM20B variants causing severe, lethal skeletal dysplasia in three fetuses from two pregnancies. Disrupted glycosaminoglycan chain formation leads to abnormal cartilage and bone development, illustrating the essential role of ...
Arda Arduç, Linda C. Zuurbier, Merel C. van Maarle, Peter Lauffer, Jonathan I. M. L. Verbeke, Caroline J. Bax, Minke van Tuyl, Ron Hochstenbach, Eva Pajkrt   +8 more
wiley   +1 more source

TEA5K: a high-resolution and liquid-phase multiple-SNP array for molecular breeding in tea plant. [PDF]

J Nanobiotechnology
Liu D, Zhang C, Ye Y, Mei P, Gong Y, Liu Z, Sun C, Zhao X, Ding S, Chen J, Chen L, Ma C.   +11 more
europepmc   +1 more source