Multiple studies have confirmed the contribution of rare de novo copy number variations to
the risk for autism spectrum disorders 1 , 2 , 3 . But whereas de novo single nucleotide …

Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births
1 . Many cases occur sporadically and impair reproductive fitness, suggesting a role for de …

Hypertension affects one billion people and is a principal reversible risk factor for
cardiovascular disease. Pseudohypoaldosteronism type II (PHAII), a rare Mendelian syndrome …

… For each of the putative binding regions, indexed by r, we can now … r as well as the
number from the control data set, … r . We appropriately normalize the count from the control by …

Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here,
exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent–…

Cutaneous T cell lymphoma (CTCL) is a non-Hodgkin lymphoma of skin-homing T lymphocytes.
We performed exome and whole-genome DNA sequencing and RNA sequencing on …

To study allele‐specific expression (ASE) and binding (ASB), that is, differences between
the maternally and paternally derived alleles, we have developed a computational pipeline (…

Recently, approaches have been developed to sample the genetic content of heterogeneous
environments (metagenomics). However, by what means these sequences link distinct …

We have generated transgenic flies expressing R7 cell-specific opsins in the major class of
photoreceptor cells of the Drosophila retina and characterized their spectral properties using …

The Autographa californica multinucleocapsid nuclear polyhedrosis virus (AcMNPV), which
is used for the overexpression of eukaryotic genes and is being engineered for possible use …