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Updated: May 13, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

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在16p13.3上有一种类似Palindrome的结构与复杂的结构变异的形成和SRRM2 Haploinsufficiency有关

Alistair T Pagnamenta1, Jing Yu1,2, Tracey A Willis3

  • 1Oxford NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.

Human mutation
|April 14, 2025
PubMed
概括

整个SRRM2的基因删除与智力障碍 (ID) 有关. 基因组测序确定了这些缺失,揭示了复杂的重组,并估计在不明原因的ID病例中患病率为1 / 1300.

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

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

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Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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