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Updated: May 10, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

在指甲骨综合征非编码基因组:遗传诊断作为个性化后续指南

Perrine Brunelle1, Anne-Sophie Jourdain1, Fabienne Escande1

  • 1Univ. Lille, CHU Lille, ULR7364 RADEME, FHU G4 Génomique, F-59000, Lille, France.

European journal of human genetics : EJHG
|March 3, 2026
PubMed
概括

在LMX1B基因中发生的非编码DNA变异会导致指甲纹状综合征 (NPS),这是一种罕见的遗传性疾病. 了解这些调节异常对于准确的基因诊断和个性化医疗方法至关重要.

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Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor

Published on: August 25, 2023

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Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Genome-wide Association Studies-GWAS

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Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...