Thats a unique idea.You should consider the following idea to enhance your idea so that it would impact uniquely: Motivation: During the past 4 years, whole-exome sequencing has become a standard tool for finding rare variants causing Mendelian disorders. In that time, there has also been a proliferation of both sequencing platforms and approaches to analyse their output. This requires approaches to assess the performance of different methods. Traditionally, criteria such as comparison with microarray data or a number of known polymorphic sites have been used. Here  expand such approaches, developing a maximum likelihood framework and using it to estimate the sensitivity and specificity of whole-exome sequencing data.#R##N##R##N#Results: Using whole-exome sequencing data for a panel of 19 individuals,  show that estimated sensitivity and specificity are similar to those calculated using microarray data as a reference.  explore the effect of frequency misspecification arising from using an inappropriately selected population and find that, although the estimates are affected, the rankings across procedures remain the same.#R##N##R##N#Availability and implementation: An implementation using Perl and R can be found at busso.ncl.ac.uk (Username: igm101; Password: Z1z1nts).#R##N##R##N#Contact: moc.tgo@teinuoH.nerraD; ku.ca.eltsacn@ferok-zenabitnas.oruam
['Darren T. Houniet', 'Thahira Rahman', 'Saeed Al Turki', 'Matthew E Hurles', 'Yaobo Xu', 'Judith Goodship', 'Bernard Keavney', 'Mauro Santibanez Koref']
I am writing a research paper on a idea Using population data for assessing next-generation sequencing performance.
[{"from": "human", "value": "I am writing a research paper on a idea Using population data for assessing next-generation sequencing performance."}, {"from": "gpt", "value": "Thats a unique idea.You should consider the following idea to enhance your idea so that it would impact uniquely: Motivation: During the past 4 years, whole-exome sequencing has become a standard tool for finding rare variants causing Mendelian disorders. In that time, there has also been a proliferation of both sequencing platforms and approaches to analyse their output. This requires approaches to assess the performance of different methods. Traditionally, criteria such as comparison with microarray data or a number of known polymorphic sites have been used. Here  expand such approaches, developing a maximum likelihood framework and using it to estimate the sensitivity and specificity of whole-exome sequencing data.#R##N##R##N#Results: Using whole-exome sequencing data for a panel of 19 individuals,  show that estimated sensitivity and specificity are similar to those calculated using microarray data as a reference.  explore the effect of frequency misspecification arising from using an inappropriately selected population and find that, although the estimates are affected, the rankings across procedures remain the same.#R##N##R##N#Availability and implementation: An implementation using Perl and R can be found at busso.ncl.ac.uk (Username: igm101; Password: Z1z1nts).#R##N##R##N#Contact: moc.tgo@teinuoH.nerraD; ku.ca.eltsacn@ferok-zenabitnas.oruam"}]