Background To facilitate the clinical implementation of genomic medicine by next-generation
sequencing, it will be critically important to obtain accurate and consistent variant calls on …

We present an open-source algorithm, Scalpel ( http://scalpel.sourceforge.net/ ), which combines
mapping and assembly for sensitive and specific discovery of insertions and deletions (…

… Our validation data showed that with the same X 2 , INDELs with a lower C O Alt tend to …
To achieve a consistent accuracy for INDELs with different C O Alt , we classified INDEL calls …

We describe an X-linked genetic syndrome associated with mutations in TAF1 and
manifesting with global developmental delay, intellectual disability (ID), characteristic facial …

As the second most common type of variation in the human genome, insertions and deletions
(indels) have been linked to many diseases, but the discovery of indels of more than a few …

Science is defined in part by an honest exposition of the uncertainties that arise in
measurements and propagate through calculations and inferences, so that the reliabilities of its …

An important part of processing elicited numerical inputs is an ability to quantitatively decode
natural-language words that are commonly used to express or modify numerical values. …

This chapter traverses contemporary understandings of the genetic architecture of human
disease, and explores the clinical implications of the current state of knowledge. Many different …

Background Whole-genome sequencing (WGS) and whole-exome sequencing (WES)
technologies are increasingly used to identify disease-contributing mutations in human genomic …

Background. In recent years, there has been an explosion in the number of technical and
medical diagnostic platforms being developed. This has greatly improved our ability to more …