Linda Koshy

7 Questions 14 Answers 0 Followers

Questions related from Linda Koshy

What is a scoping review?

In what context should we choose to do a scoping review? How is it different from systematic review, literature review, mapping review and Cochrane review? What are its mandatory or optional...

06 July 2020 8,452 3 View

If I use REVEL score as a meta-predictor for clinical variant classification, what would be a reasonable cut-off to filter disease variants?

Ioannidis et al., 2019, reported the development of the REVEL score (rare exome variant ensemble learner) for redefining pathogenic variant classification, and Tian et al., 2019, reported that...

30 March 2020 2,618 2 View

What is the input data in Arlequin to calculate Fst values?

Is it sequence data, SNP allele frequencies or haplotype frequencies?

21 January 2015 6,010 4 View

Identity score or e-value - what's the better measure for species identification in BLAST?

And what is a reliable threshold for these measures?

06 January 2015 6,335 4 View

How does one use PHASE 2.1 for calculating recombination rate, in Win OS?

I need to calculate the recombination rate for the biallelic SNPs in a gene of interest. However, I would like to run the PHASE programe on a Windows OS. How can we make the .inp file? Do we need...

04 July 2014 6,631 0 View

What are the Mechanisms and pathways involved in hypertrophic cardiomyopathy?

Although hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease caused by mutations predominantly in sarcomere genes, there are many mechanisms and pathways involved in HCM that leads...

01 January 1970 8,116 3 View

MYBPC3 and MYH7 are the most commonly mutated genes in Hypertrophic cardiomyopathy, why?

Is there any logical reason as to why MYBPC3 and MYH7 are the most commonly mutated genes the genetic spectrum of Hypertrophic cardiomyopathy (HCM)? Is it because of the relatively larger size of...

01 January 1970 3,216 4 View