Results 131 to 140 of about 1,520,842 (344)
Journal of Assisted Reproduction and Genetics, 2016 PurposeThe purpose of the study is to validate a method that provides the opportunity to distinguish a balanced translocation carrier embryo from a truly normal embryo in parallel with comprehensive chromosome screening (CCS).MethodsA series of ...
N. Treff +12 more
semanticscholar +1 more source
Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays [PDF]
, 2004 Gabrielle S. Sellick
openalex +1 more source
Frontiers in Plant Science, 2017 A high-density consensus map is a powerful tool for gene mapping, cloning and molecular marker-assisted selection in wheat breeding. The objective of this study was to construct a high-density, single nucleotide polymorphism (SNP)-based consensus map of ...
Weie Wen +7 more
semanticscholar +1 more source
Novel Intragenic Duplication of GATAD2B in a Patient With GAND
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B‐Associated Neurodevelopmental Disorder (GAND), an ...
Mari Mori +9 more
wiley +1 more source
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.
Theresa Brunet +11 more
wiley +1 more source
Scientific Reports, 2016 Domestication of soybeans occurred under the intense human-directed selections aimed at developing high-yielding lines. Tracing the domestication history and identifying the genes underlying soybean domestication require further exploration.
Jiao Wang +5 more
semanticscholar +1 more source
Theoretical and Applied Genetics, 2016 Infinium SNP data analysed as continuous intensity ratios enabled associating genotypic and phenotypic data from heterogeneous oat samples, showing that association mapping for frost tolerance is a feasible option.
G. Tumino +9 more
semanticscholar +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
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips +8 more
wiley +1 more source
Region-specific detection of neuroblastoma loss of heterozygosity at multiple loci simultaneously using a SNP-based tag-array platform [PDF]
, 2005 John M. Maris +7 more
openalex +1 more source