Results 111 to 120 of about 73,771 (300)

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

Identification of structural aberrations in cancer by SNP array analysis [PDF]

, 2007
Stefan Heinrichs, A. Thomas Look
openalex   +1 more source

A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss

Journal of Clinical Laboratory Analysis, EarlyView.
We identified a novel c.1023_1029del (p.Asp342ArgfsTer54) frameshift variant in the HOMER2 gene that causes ADNSHL in a Chinese family with progressive, post‐lingual sensorineural hearing loss. The c.1023_1029del variant deletes 7 nucleotides, leading to an extended incorrect protein C terminus and marks the sixth pathogenic (or likely pathogenic ...
Li‐Ting Peng, Wei‐Qian Wang, Sha‐Sha Huang, Min Liu, Su‐Yan Yang, Dong‐Yang Kang, Xiang Wang, Xue Gao, Yong‐Yi Yuan, Jin‐Cao Xu   +9 more
wiley   +1 more source

False Positive or False Negative—An Interesting Case in Prenatal Diagnostic Laboratory

Journal of Clinical Laboratory Analysis, EarlyView.
A prenatal case in which discordant results were identified among SNP‐Array, PNBoBs, conventional karyotyping, and FISH, highlighting the importance of recognizing the limitations of various testing techniques for clinicians to avoid misdiagnosis and missed diagnosis.
Pingping Zhang, Yanmei Sun, Haishen Tian, Xuedong Shi, Limin Rong, Yali Li   +5 more
wiley   +1 more source

Genetic differentiation at methylation array probe SNPs leads to spurious results in meQTL discovery

, 2023
Gillian Meeks, Shyamalika Gopalan
openalex   +1 more source

Genome‐wide association study of periodontitis severity and progression

Journal of Periodontology, EarlyView.
Abstract Background To add to the knowledge base of periodontal genomics, we carried out a genome‐wide association study (GWAS) of periodontitis severity and progression among 416 mixed‐ethnicity adult participants of a periodontitis clinical study. Methods Participants were 168 adults (mean age = 50 years, 46% males) with severe periodontitis and 248 ...
Flavia Teles, Ganesh Chandrasekaran, Lynn Martin, Poojan Shrestha, Kevin Moss, Michele Patel, Michael J. Kallan, Camila Furquim, Andrew J. Cucchiara, James D. Beck, Kari E. North, Joseph Glessner, Kimon Divaris   +12 more
wiley   +1 more source

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization [PDF]

, 2009
Jan M. Friedman, Shelin Adam, Laura Arbour, Linlea Armstrong, Ágnes Baross, Patricia Birch, Cornelius F. Boerkoel, Susanna Chan, David Chai, Allen Delaney, Stéphane Flibotte, William T. Gibson, Sylvie Langlois, Emmanuelle Lemyre, H. Irene Li, Patrick MacLeod, Joan Mathers, Jacques L. Michaud, Barbara McGillivray, Millan S. Patel, Hong Qian, Guy A. Rouleau, Margot I. Van Allen, Siu Li Yong, Farah Zahir, Patrice Eydoux, Marco A. Marra   +26 more
openalex   +1 more source

Suffix Arrays for Spaced-SNP Databases

, 2014
Single-nucleotide polymorphisms (SNPs) account for most variations between human genomes. We show how, if the genomes in a database differ only by a reasonable number of SNPs and the substrings between those SNPs are unique, then we can store a fast compressed suffix array for that database.
openaire   +2 more sources

A set of serum proteomic biomarkers differentiates celiac children from age and human leukocyte antigen‐matched healthy controls

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objective The latest European Society of Gastroenterology Hepatology and Nutrition (ESPGHAN) criteria for celiac disease (CD) diagnosis reduced the requirement for a small intestinal biopsy but still, for most of the cases a small intestinal biopsy is required for a safe diagnosis: hence the attempt to identify serum biomarkers that could ...
Roberta Mandile, Michele Francesco di Tolla, Martina Carpinelli, Janneke Nicoline Samsom, Rossella De Cegli, Maria Vittoria Barone, Riccardo Troncone, Pietro Formisano, Luigi Greco, Renata Auricchio   +9 more
wiley   +1 more source

Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing

Scientific Reports
The study explored the clinical significance of fetal loss of heterozygosity (LOH) identified by single-nucleotide polymorphism array (SNP array). We retrospectively reviewed data from pregnant women who underwent invasive diagnostic procedures at ...
Huili Xue, Aili Yu, Lin Zhang, Lingji Chen, Qun Guo, Min Lin, Na lin, Xuemei Chen, Liangpu Xu, Hailong Huang   +9 more
doaj   +1 more source