Results 61 to 70 of about 75,225 (256)

Genetic Diversity and Population Structure in a Vitis spp. Core Collection Investigated by SNP Markers

open access: yesDiversity, 2020
Single nucleotide polymorphism (SNP) genotyping arrays are powerful tools to measure the level of genetic polymorphism within a population. The coming of next-generation sequencing technologies led to identifying thousands and millions of SNP loci useful
Davide Bianchi   +2 more
doaj   +1 more source

Autozygosity Mapping by Genome-wide Single Nucleotide Polymorphism Array Identifies a Novel Homozygous HR Mutation in a Consanguineous Family with Universal Hereditary Hair Loss

open access: yesInternational Journal of Dermatology and Venerology, 2021
. Objective:. Isolated hereditary hypotrichosis is caused by mutations in as many as 11 different genes. The conventional mutation detection strategy consists of sequencing of individual candidate genes separately, a time consuming and costly approach ...
Sirous Zeinali   +6 more
doaj   +1 more source

PlantGFM: A Genomic Foundation Model for Discovery and Creation of Plant Genes

open access: yesAdvanced Science, EarlyView.
A plant genomic foundation model pre‐trained on 12 species enables both accurate gene prediction and de novo gene design. Through AI‐human knowledge screening, seven designed sequences showed transcriptional activity in plants, with two expressing stable proteins—demonstrating the first DNA‐RNA‐protein expression of LLM‐generated genes in plants and ...
Changhao Li   +10 more
wiley   +1 more source

CNV discovery using SNP genotyping arrays

open access: yesCytogenetic and Genome Research, 2008
Genome-wide single nucleotide polymorphism (SNP) genotyping platforms have made an important contribution to population genetics and genetic epidemiology. Recently there has been a realisation that these SNP platforms can also be used for typing copy number variants (CNVs).
Yau, C, Holmes, C
openaire   +3 more sources

Natural Variation of COLD and CATECHINS REGULATOR 1 Coordinately Fine‐Tunes Cold Tolerance and Tea Quality in Tea Plants

open access: yesAdvanced Science, EarlyView.
Multi‐trait genome‐wide association mapping identifies a central hub regulator, COLD AND CATECHINS REGULATOR 1 (CCR1), and its excellent natural allele variation, coordinately enhancing cold tolerance and promoting catechins biosyntheis. CsCCR1 interacts with CsCBF1/3 and is transcriptionally activated by CsLUX and CsKUA1 to promote catechins ...
Yanli Wang   +10 more
wiley   +1 more source

Application of Single Nucleotide Polymorphism Microarray in Prenatal Diagnosis of Fetuses with Central Nervous System Abnormalities

open access: yesInternational Journal of General Medicine, 2021
Xiaorui Xie, Xiaoqing Wu, Linjuan Su, Meiying Cai, Ying Li, Hailong Huang, Liangpu Xu Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children’s Hospital ...
Xie X   +6 more
doaj  

Kenyan Farmers' Policy Priorities During Economic Crisis and Stability: Insights From a Best‐Worst Scaling Experiment

open access: yesApplied Economic Perspectives and Policy, EarlyView.
ABSTRACT Amid rising food and fertilizer prices, understanding farmers' policy preferences is critical for effective crisis response. We use best‐worst scaling experiment to assess Kenyan mobile‐owning crop farmers' preferences for government support under high and normal price scenarios.
Mywish K. Maredia   +4 more
wiley   +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

open access: yesAmerican 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   +10 more
wiley   +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

open access: yesAmerican 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   +11 more
wiley   +1 more source

Pooled DNA genotyping on Affymetrix SNP genotyping arrays [PDF]

open access: yesBMC Genomics, 2006
Abstract Background Genotyping technology has advanced such that genome-wide association studies of complex diseases based upon dense marker maps are now technically feasible. However, the cost of such projects remains high.
Owen Michael J   +5 more
openaire   +3 more sources

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