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How to calculate the length of gene coding region in batches
Gene detection and interpretation (GH _ 56 1c4cccc5356)
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The latest articles on gene detection and interpretation
An incredible way of inheritance.
We know that autosomal recessive inheritance generally means that defective chromosomes come from both parents, which can be divided into homozygous mutation and compound heterozygous mutation according to whether the mutation sites are the same, but have you ever heard that both defective sites come from one parent?
Gene detection and interpretation September 19 10: 17
exon
Re-analysis of previously undiagnosed clinical cases with all exons can improve the diagnostic rate.
This paper mainly introduces a paper PMID:2744 1994(IF:7.7) in Medical Genetics.
Gene detection and interpretation September 13 12: 14
Genetic test article
List of articles on gene detection and interpretation
Pay attention to the micro-signal reply number to view the article.
Gene detection and interpretation September 13 12: 14
What exactly is RVAS? Will replace GWAS
In the past eight years, GWAS (genome-wide association studies) research has been widely used to analyze genetic genes and complex common diseases and quantitative traits.
Gene detection and interpretation 07 September 1 1: 17
sample
There is a shortcut to sample collection of genetic families.
Recently, You Xia Jun was invited to participate in a discussion on a natural topic in a classmate's country: when he took out a family map and marked which samples had DNA, You Xia was surprised to find that only five people in a family of more than 30 people had DNA samples.
Gene detection and interpretation: 06:09 on August 26th.
How about genetic testing for genetic diseases?
How should clinicians choose genetic testing for genetic diseases?
Recently, this official WeChat account received a background message from a lady, asking you to help me interpret the gene report. She has a two-year-old daughter with low platelets. After 1 year treatment, it improved slightly but still failed to reach the standard, and there were no other clinical manifestations.
Gene detection and interpretation: 06:09 on August 26th.
The biggest project
The world's largest genetic research project for congenital developmental abnormalities.
Author: Zhou Zaiwei outlined that "DDD Plan" is an innovative project of rare diseases, and DDD is deciphering Germany.
Gene detection and interpretation August 13 00: 15
What about exons
How to analyze the variation of total copy number of exons
In this paper, XHMM and CODEX are introduced to analyze the whole exon of CNV.
Gene detection and interpretation August 13 00: 15
how
How to find new pathogenic genes from sporadic cases
Clinical geneticists often encounter cases with unclear genetic diagnosis in outpatient clinics. At present, only about 30% of genetic diseases can find the pathogenic genes even through whole exon sequencing. The accumulation of remaining cases with unclear genes is very valuable for discovering new pathogenic genes.
Gene detection and interpretation July 25 10:37
animation
What is DNA? 3d animation tells you
If you want to see the original animation, please download it
Gene detection and interpretation July 25 10:37
Website center
MyGene2 website centers on patients with rare diseases.
The Mendel Genome Medical Center of the University of Washington has created the mygene2 website, which makes it possible for patients and their families to participate in the work of clinicians and scientists to find genes related to rare diseases.
Gene detection and interpretation July 25 10:37
Chromosome genome
Looking for Chromosome Breakpoints-Capture Sequencing or Whole Genome Sequencing?
Today, a friend on WeChat asked about chromosome inversion. Can we detect specific breakpoints by capturing and sequencing? First of all, it is definitely possible in theory, but it is definitely not as cost-effective as sequencing directly from the whole genome.
Gene detection and interpretation July 25 10:37
exon
Analysis of clinical full exon gene data
There is no difference between clinical whole exon sequencing methods and research exons. They all use sequence capture technology to capture and enrich the whole genome exon DNA, and then carry out high-throughput sequencing.
Gene detection and interpretation July 25 10:37
Genetic test article
List of articles on gene detection and interpretation
Pay attention to the micro-signal reply number to view the article.
Gene detection and interpretation July 25 10:37
How to calculate the length of gene coding region in batches?
Sometimes we need to know the length of the transcript. For example, when calculating FPKM using RNA-seq, in order to accurately evaluate the expression of different genes, the total reading of the covering gene/transcript is usually divided by the length of the gene/transcript.
Gene detection and interpretation July 25 10:37
Abdominal pain plus repeated low-grade fever may be caused by genes.
Recently, Professor Leonard of university of vermont established a working group "Know Your Genome", in which 73 faculty members from university of vermont volunteered to sequence their whole genomes.
Gene detection and interpretation July 65438+July 2 1:23
Do you know how long a gene is?
Many friends who don't understand biology will ask me, how long is the gene? This is a question that is difficult to give a clear answer. A gene is a functional DNA fragment, which consists of four bases of ATGC, each base 1 bp, and some genes are very long. At present, the longest gene is DMD gene, with a total length of 222029 1bp (from NCBI).
Gene detection and interpretation July 65438+June 2 1:24
Gene detection
Interpretation of genetic test reports is essential.
Recently, the official account of WeChat received a request for help from a reader, hoping that you Xia could help to interpret the genetic test report. She is very worried about her health and thinks that she has been diagnosed as a genetic disease through genetic testing. She didn't dare to wear lipstick or eat chicken, and even the decoration at home stopped.
Gene detection and interpretation June 9, 65438 +00:2 1
Scientists found coronary heart disease
Scientists have found that rare gene loci can significantly reduce the risk of coronary heart disease.
With the continuous reproduction of human beings, genes are constantly mutating and evolving. Most of the time, these mutations may damage human health, such as monogenic genetic diseases. However, some gene mutations may protect our health, but due to the lack of scientific research means, it is difficult to find such beneficial mutations.
Gene detection and interpretation may 30th 0 1:29
What does genetic testing ode to joy do?
What genetic test should Andy do in Ode to Joy?
Recently, the TV series Ode to Joy is very popular. In the play, Andy's mother and grandmother both suffer from serious mental illness, and his younger brother Xiaoming has serious mental retardation.
Gene detection and interpretation may 21June 1 1:48
Mediterranean genetic disease
Genetic analysis of a suspected family hereditary disease of Mediterranean fever
Recently, the official account of genetic testing and interpretation WeChat received a request for help from a reader, hoping that Ranger can help interpret the genetic testing report.
Gene detection and interpretation 00:30 on May 20th.
genome
CNV Topic 2: Peak Analysis of Copy Number Variation of Whole Genome
This issue mainly introduces the analysis of the variation of human genome sequencing copy number by using CREST (Clipping Revealing Structure) software. Ranger mentioned in the last issue that the current software mainly uses three features to calculate CNV, and CREST mainly uses one of them to calculate CNV.
Gene detection and interpretation 02 May 15:09
genome
CNV topic 1: genomestrip2 analysis of genome-wide copy number variation
CNV, also known as copy number variation, including deletion and replication, belongs to an unbalanced translocation. According to literature estimates, everyone has thousands of CNVs, many of which are located between genes or introns of genes.
Gene detection and interpretation April 18 00:3 1
Study together
NGS data analysis summary site selection 2
Ranger introduced how to use Annovar labeled information to screen loci before. Today, this paper introduces how VAAST software can screen candidate pathogenic sites.
Gene detection and interpretation March 20, 22:2 1
resources
Genetic family resource exchange platform
Recently, the ranger received a phone call from a reader. He has a small family of it runs in the family and two people who are sick. After three cases of complete exon capture sequencing, dozens of candidate gene loci were obtained He wants to ask how to continue the research next.
Gene detection and interpretation March 0 1 day 12:23
Learn the operating system together
Learn the operating system of NGS data analysis together.
Because many free and open source softwares run under linux system, it is inevitable to install linux system if you want to learn bioinformatics analysis, but don't worry too much. Now linux system is not the original DOS command line.
Gene detection and interpretation 0 1.29 00:08
genome
What is the strength of human genome sequencing?
As one of the few people who contact and analyze the analysis of human genome sequencing (WGS) in China, seeing that many practitioners and even professional bioinformatics personnel don't understand WGS, you Xia felt it necessary to popularize the strength of whole genome sequencing!
Gene detection and interpretation 065438+1October 19 17:20
Learn to test together
Detection of tumor mutation based on NGS data analysis
In the last section, we discussed how to detect phylogenetic variation. In this issue, we will talk about the mutation detection of tumor somatic cells.
Gene detection and interpretation 065438+ 10 June 65438+May 23:50
Learn to test together
Mutation detection in NGS data analysis
I haven't updated it for a long time. Some readers left a message expecting the following article, so they started writing again. Next time you see that I haven't updated, please leave a message to remind me in time, or I will be lazy again!
Gene detection and interpretation 065438+ 10 June 65438+May 03:50
how
How to design the position of quantitative PCR primers skillfully according to the data of expression profile chip
A friend found differentially expressed genes after finishing the expression profile chip, and designed primer quantitative PCR to verify that there was no significant difference between the control sample and the treated sample? What the hell is going on here?
Gene detection and interpretation 0 1.06 03:27
Study together
Learn data quality control of NGS data analysis together.
After getting the original data of gene sequencing company, it is generally clean data, also called PF data. The first thing to do is to check whether the amount of data is enough and the quality of sequencing. At present, the most popular data quality checking software is FastQC.
Gene detection and interpretation 0 1.03 19:57
Gene detection and interpretation
gh_56 1c4ccc5356
Introduce the new progress of gene detection, exchange the results of clinical gene sequencing, discuss the process and method of gene data analysis, express my understanding and views on gene industry, and provide gene consulting services!
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Gene detection and interpretation
gh_56 1c4ccc5356
Introduce the new progress of gene detection, exchange the results of clinical gene sequencing, discuss the process and method of gene data analysis, express my understanding and views on gene industry, and provide gene consulting services!
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