Is there a publically avaliable database of clinically known variants? What we do is upload a list of genes and get the known pathogenic variants in this gene. Currently we do this manually every 3 moths with HGMD, but that is getting too dificult and I would like to automate that process. Thank you.
Seqanswers Leaderboard Ad
Collapse
Announcement
Collapse
No announcement yet.
X
-
Well, HGMD Professional is still the best source of data on germline mutations. Similar type of information could be found in OMIM and ClinVar as well, however HGMD is manually curated and just comparing numbers it has about 150k mutations while OMIM has 22k and ClinVar 67k. It could take a lot of effort to regularly extract information in bulk from online version of HGMD as you do with gene panels, but that's what download version is for. It comes as simple relational database (MySQL) and querying it is very easy.
Comment
Latest Articles
Collapse
-
by seqadmin
The sequencing world is rapidly changing due to declining costs, enhanced accuracies, and the advent of newer, cutting-edge instruments. Equally important to these developments are improvements in sequencing analysis, a process that converts vast amounts of raw data into a comprehensible and meaningful form. This complex task requires expertise and the right analysis tools. In this article, we highlight the progress and innovation in sequencing analysis by reviewing several of the...-
Channel: Articles
05-06-2024, 07:48 AM -
-
by seqadmin
The field of epigenetics has traditionally concentrated more on DNA and how changes like methylation and phosphorylation of histones impact gene expression and regulation. However, our increased understanding of RNA modifications and their importance in cellular processes has led to a rise in epitranscriptomics research. “Epitranscriptomics brings together the concepts of epigenetics and gene expression,” explained Adrien Leger, PhD, Principal Research Scientist...-
Channel: Articles
04-22-2024, 07:01 AM -
ad_right_rmr
Collapse
News
Collapse
Topics | Statistics | Last Post | ||
---|---|---|---|---|
Started by seqadmin, 05-14-2024, 07:03 AM
|
0 responses
24 views
0 likes
|
Last Post
by seqadmin
05-14-2024, 07:03 AM
|
||
Started by seqadmin, 05-10-2024, 06:35 AM
|
0 responses
44 views
0 likes
|
Last Post
by seqadmin
05-10-2024, 06:35 AM
|
||
Started by seqadmin, 05-09-2024, 02:46 PM
|
0 responses
58 views
0 likes
|
Last Post
by seqadmin
05-09-2024, 02:46 PM
|
||
Started by seqadmin, 05-07-2024, 06:57 AM
|
0 responses
44 views
0 likes
|
Last Post
by seqadmin
05-07-2024, 06:57 AM
|
Comment