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関連する概念動画

Genome Annotation and Assembly03:36

Genome Annotation and Assembly

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The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Genomics02:02

Genomics

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
36.9K
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

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Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
187
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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Updated: Aug 22, 2025

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
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Published on: September 6, 2024

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総合的な全ゲノム配列アノテーションによる自閉症のゲノム構造

Brett Trost1, Bhooma Thiruvahindrapuram2, Ada J S Chan1

  • 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.

Cell
|November 11, 2022
PubMed
まとめ
この要約は機械生成です。

全ゲノム配列解析 (WGS) は自閉症スペクトル障害 (ASD) の遺伝的変異を明らかにする. この研究では11,312人の個人を分析し,ASD症例の14.1%で 珍しい変異を特定し,自閉症遺伝学の研究を進めました

キーワード:
自閉症スペクトル障害コピーの数による変化神経発達障害フェノタイプ測定多遺伝子リスクスコア珍しい変種構造的な変化全ゲノムシーケンシング

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

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Last Updated: Aug 22, 2025

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
08:30

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Published on: September 6, 2024

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

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科学分野:

  • 遺伝学
  • 神経発達障害
  • バイオ情報学

背景:

  • 自閉症スペクトル障害 (ASD) の遺伝的基礎を理解することは,診断と治療に不可欠です.
  • オールゲノムシーケンシング (WGS) はASDの総合的な遺伝分析に不可欠です.

研究 の 目的:

  • 大規模なコホートからのWGSデータを含む,Autism Speaks MSSNGリソースの最新リリースを提示します.
  • ASDに関連する珍しい遺伝子変異を特定し,特徴づけること.

主な方法:

  • Autism Speaks MSSNG リソース (n=11,312) と Simons Simplex コレクション (SSC; n=9,205) から WGS データを使用した.
  • 配列レベル,構造変異,ミトコンドリア変異を含む様々な遺伝子変異型を分析した.

主要な成果:

  • MSSNGコホートでは14. 1%,SSCコホートでは14. 5%でASDに関連したまれな変異が確認された.
  • 変異の52%は配列レベルであり,46%は構造的変異であり,2%はミトコンドリア的変異であった.

結論:

  • この研究はASDにおける遺伝子型-フェノタイプの相関を調査するための貴重なリソースを提供します.
  • この研究は,特にイディオパシー症例におけるASDの遺伝的病因に関するさらなる研究のための基盤として機能します.