How do you find absolute numbers of variants detected in a gene of interest?

19 December 2019 0 9K Report

This question keeps me busy - is there any database or any other scientifcically valid way to determine the frequency of disease-causing variants within a given gene? Most publications on this topic usually estimate the frequency by examinination of a small group of individuals with the disease - but is there a database that collects information on this stopic?

Badges
Science topic

Similar topics
Psychology

What does Servant Leadership mean today and in the future? What are the advantages and disadvantages?

In current time of many changes in business and world of work, a lot is said and reported about the importance, skills and benefits of leadership. Are soft skills becoming more and more important?...

02 March 2021 8,149 3 View

How can I edit suggested publications?

Hi there! I regularly receive suggestion about papers and authors that are totally out of my area. Does anybody know how I can fix this? Thank you!

01 March 2021 9,574 4 View

What are possible instrumental variables for business dynamics (firm entry/exit)?

Dear All, For my paper, I use business dynamics (firm entry/exit rates) as an independent variable in the econometric part. Due to endogeneity I follow a 2SLS approach, for which I need a...

28 February 2021 5,322 3 View

Why am I not able to use all VEP programs for the in silico analysis of avpr1b SNP's?

Good day researchers I am busy analysing the predicted effects of certain SNP's in AVPR1b. When using the VEP prediction programs (SIFT, Polyphen, FATHMM, LRT, Provean, Mutation Assessor, and...

28 February 2021 5,197 1 View

When is it unnecessary to change organisational culture?

As a former management practitioner, I recall a generally accepted view that changing organisational culture is difficult, so you should only attempt it if the organisational change that you are...

27 February 2021 2,595 8 View

What are the important topics in the field of Artificial Intelligence in Business world?

Dear All, I am doing my MS in Electronic Businesses. And I am interested in the AI field and its applications for businesses, its benefits, impacts, etc. What kind of scientific research dominate...

26 February 2021 8,816 6 View

How can misfit between business requirents and ERP system business process be reduced?

One main reason for failure of most ERP implementations is the misfit between business requirents and ERP system business process be reduced. How can the misfit between business requirents and ERP...

22 February 2021 5,709 5 View

Why is ethics significant in business and how should one control unethical behavior ?

1. The significance of ethics to business and how to control bad behavior.

21 February 2021 882 14 View

How can I separate Gertrud Pfister's profile and the profile of Gerald Gems?

we are co-authors of several publications. But I am the only and single author of most of my publications which are based on my own research. How can I separate the profiles?

21 February 2021 4,582 3 View

Why use both bead beating and enzymes (lysostaphin and lysozyme) for DNA extraction from sputum samples?

Hello, I have read in a few publications that to extract total DNA from sputum samples, both bead beating and enzymes are used to disrupt the cells. Bead beating is supposed to be efficient in...

18 February 2021 3,360 2 View