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Updated: Jun 24, 2026

Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

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全基因组测序转移性突变负担在骨外肌肉性肌肉性肌肉性肌肉性肌肉性肌肉性肌肉性肌肉性肌肉性肌肉性肌肉性肌肉性肌肉

Trudy Zou1, Rahil Sethi2, Jiefei Wang2

  • 1Musculoskeletal Oncology Laboratory, Department of Orthopaedic Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States.

Frontiers in molecular medicine
|August 1, 2024
PubMed
概括

骨外肌性软骨瘤 (EMC) 是一种罕见的癌症. 全基因组测序揭示了转移部位的显著基因组变化,这表明晚期疾病的分子驱动因素正在演变.

关键词:
骨外肌性肌性软骨髓瘤肺部转移是肺部转移的原因之一.肉瘤 肉瘤是一种肉瘤.软组织肉瘤软组织肉瘤结构变体结构变体整个基因组的测序.

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Mutations01:39

Mutations

Overview
Mutations01:39

Mutations

Overview
Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...