相关实验视频

Updated: Sep 18, 2025

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
10:41

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Published on: March 29, 2017

11.9K

下一代测序允许识别TfR2基因中的新突变,并优于传统的诊断技术

Miriam Longo1, Erika Paolini1, Marica Meroni1

  • 1Medicine and Metabolic Diseases Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.

EJHaem
|June 27, 2025
PubMed
概括

3型遗传性血染色症 (HH) 是一种罕见的遗传性疾病,由TFR2基因突变引起. 整体外基因组测序发现了一名意大利患者的新突变,有助于诊断这种罕见的铁过载疾病.

更多相关视频

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

24.5K
Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

11.9K

相关概念视频

Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
92.7K