Results 41 to 50 of about 1,566,477 (261)

Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer. [PDF]

, 2019
Whole exome sequencing (WES), targeted gene panel sequencing and single nucleotide polymorphism (SNP) arrays are increasingly used for the identification of actionable alterations that are critical to cancer care.
Carpten, John D, Kaur, Pushpinder, Lang, Julie E, Porras, Tania B, Ring, Alexander   +4 more
core   +3 more sources

Migrating the SNP array-based homologous recombination deficiency measures to next generation sequencing data of breast cancer

npj Breast Cancer, 2018
The first genomic scar-based homologous recombination deficiency (HRD) measures were produced using SNP arrays. As array-based technology has been largely replaced by next generation sequencing approaches, it has become important to develop algorithms ...
Z. Sztupinszki, M. Dióssy, M. Krzystanek, L. Reiniger, I. Csabai, F. Favero, Nicolai J. Birkbak, A. Eklund, Ali Syed, Z. Szallasi   +9 more
semanticscholar   +1 more source

Genome-wide SNP typing of ancient DNA: Determination of hair and eye color of Bronze Age humans from their skeletal remains. [PDF]

, 2020
Objective A genome-wide high-throughput single nucleotide polymorphism (SNP) typing method was tested with respect of the applicability to ancient and degraded DNA. The results were compared to mini-sequencing data achieved through single base extension (
Dörk, T., Hummel, S., Klintschar, M., Krause, I., Schmidt, N., Schücker, K.   +5 more
core   +2 more sources

SNPs ANALYSIS AS A TOOL IN MOLECULAR GENETICS DIAGNOSTICS

Majalah Kedokteran Andalas, 2015
AbstrakSingle Nucleotide Polymorphism (SNP) merupakan variasi genetik yang ditemukan pada lebih dari 1% populasi. Haplotipe, yang merupakan sekelompok SNP atau alel dalam satu kromosom, dapat di turunkan ke generasi selanjutnya dan dapat digunakan untuk ...
Dewi Rusnita
doaj   +1 more source

Fetal genetic findings by chromosomal microarray analysis and karyotyping for fetal growth restriction without structural malformations at a territory referral center: 10-year experience

BMC Pregnancy and Childbirth, 2023
Background Prenatal invasive genetic testing is commonly recommended to pregnancies of early-onset FGR or FGR combined with a structural defect. Our study aimed to explore the genetic findings for FGR without structural malformations according to ...
Xiaoqing Wu, Shuqiong He, Ying Li, Danhua Guo, Xuemei Chen, Bin Liang, Meiying Wang, Hailong Huang, Liangpu Xu   +8 more
doaj   +1 more source

Genotyping and annotation of Affymetrix SNP arrays

Nucleic Acids Research, 2006
In this paper we develop a new method for genotyping Affymetrix single nucleotide polymorphism (SNP) array. The method is based on (i) using multiple arrays at the same time to determine the genotypes and (ii) a model that relates intensities of individual SNPs to each other.
Carsten Wiuf, Carsten Wiuf, Claus L. Andersen, Philippe Lamy, Friedrik P. Wikman   +4 more
openaire   +3 more sources

Clinical Utility and the Yield of Single Nucleotide Polymorphism Array in Prenatal Diagnosis of Fetal Central Nervous System Abnormalities

Frontiers in Molecular Biosciences, 2021
Applying single nucleotide polymorphism (SNP) array to identify the etiology of fetal central nervous system (CNS) abnormality, and exploring its association with chromosomal abnormalities, copy number variations, and obstetrical outcome.
Meiying Cai, Hailong Huang, Liangpu Xu, Na Lin   +3 more
doaj   +1 more source

A High-Density Linkage Map of the Ancestral Diploid Strawberry, Fragaria iinumae, Constructed with Single Nucleotide Polymorphism Markers from the IStraw90 Array and Genotyping by Sequencing [PDF]

, 2016
Fragaria iinumae Makino is recognized as an ancestor of the octoploid strawberry species, which includes the cultivated strawberry, Fragaria ×ananassa Duchesne ex Rozier.
Abebe-Akele, Feseha, Bassil, Nahla V., Davis, Thomas M., Folta, Kevin M., Hancock, James F., Mahoney, Lise L., Sargent, Daniel J., Ward, Judson A., Wood, David J.   +8 more
core   +3 more sources

Identification of SNP-containing regulatory motifs in the myelodysplastic syndromes model using SNP arrays and gene expression arrays [PDF]

Chinese Journal of Cancer, 2013
Myelodysplastic syndromes have increased in frequency and incidence in the American population, but patient prognosis has not significantly improved over the last decade. Such improvements could be realized if biomarkers for accurate diagnosis and prognostic stratification were successfully identified. In this study, we propose a method that associates
Fan, Jing, Dy, Jennifer G., Chang, Chung-Che, Zhou, Xiaoboo   +3 more
openaire   +4 more sources

Utilization of a Wheat660K SNP array-derived high-density genetic map for high-resolution mapping of a major QTL for kernel number

Scientific Reports, 2017
In crop plants, a high-density genetic linkage map is essential for both genetic and genomic researches. The complexity and the large size of wheat genome have hampered the acquisition of a high-resolution genetic map.
F. Cui, N. Zhang, Xiaoyan Fan, Wei Zhang, Chun-hua Zhao, Li-juan Yang, Rui-qing Pan, Mei Chen, Jie Han, Xueqiang Zhao, J. Ji, Y. Tong, Hong-xia Zhang, J. Jia, Guang-yao Zhao, Junming Li   +15 more
semanticscholar   +1 more source