Seqanswers Leaderboard Ad

Collapse

Announcement

Collapse
No announcement yet.
X
 
  • Filter
  • Time
  • Show
Clear All
new posts

  • Converting indels through to AminoAcid change

    Hello
    I am paused at a part in my project of analysing a genome for a rare neurological presentation (extremely rare- prevalence of only a few in the literature). The rare part being the symptom which is visual in nature, the neuroradiological etiology being very common in neurological disorders- white matter degradation.
    Ive found a gene of particular interest. The mutations in this gene are all indels. No SNP, no CNV.
    To work out whether its likely pathological i need to work out if the change leads to a loss or gain of a cysteine residue within one of the EGFRs of NOTCH3 extracellular domain.
    Ive found 7 mutations within the 23 exons which code for the epidermal growth factor-like repeat domains im wondering if someone could please give me an indication as to how i advance further on this to work out if they lead to a loss or gain of cysteine residue
    Thanks
    Mikey

Latest Articles

Collapse

  • seqadmin
    Techniques and Challenges in Conservation Genomics
    by seqadmin



    The field of conservation genomics centers on applying genomics technologies in support of conservation efforts and the preservation of biodiversity. This article features interviews with two researchers who showcase their innovative work and highlight the current state and future of conservation genomics.

    Avian Conservation
    Matthew DeSaix, a recent doctoral graduate from Kristen Ruegg’s lab at The University of Colorado, shared that most of his research...
    03-08-2024, 10:41 AM
  • seqadmin
    The Impact of AI in Genomic Medicine
    by seqadmin



    Artificial intelligence (AI) has evolved from a futuristic vision to a mainstream technology, highlighted by the introduction of tools like OpenAI's ChatGPT and Google's Gemini. In recent years, AI has become increasingly integrated into the field of genomics. This integration has enabled new scientific discoveries while simultaneously raising important ethical questions1. Interviews with two researchers at the center of this intersection provide insightful perspectives into...
    02-26-2024, 02:07 PM

ad_right_rmr

Collapse

News

Collapse

Topics Statistics Last Post
Started by seqadmin, 03-14-2024, 06:13 AM
0 responses
32 views
0 likes
Last Post seqadmin  
Started by seqadmin, 03-08-2024, 08:03 AM
0 responses
71 views
0 likes
Last Post seqadmin  
Started by seqadmin, 03-07-2024, 08:13 AM
0 responses
80 views
0 likes
Last Post seqadmin  
Started by seqadmin, 03-06-2024, 09:51 AM
0 responses
68 views
0 likes
Last Post seqadmin  
Working...
X