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 (…

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 …

Dense local, recurrent connections are a major feature of cortical circuits, yet how they affect
neurons' responses has been unclear, with some studies reporting weak recurrent effects, …

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. …

Cerebral cortex supports representations of the world in patterns of neural activity, used by
the brain to make decisions and guide behavior. Past work has found diverse, or limited, …

Late childhood and early adolescence is characterized by substantial brain maturation which
contributes to both adult-like and age-dependent resting-state network connectivity patterns…

Negative emotionality (NE) refers to individual differences in the propensity to experience
and react with negative emotions and is associated with increased risk of psychological …