Cancer is a clonal disorder derived from a single ancestor cell and its progenies that are
positively selected by acquisition of 'driver mutations'. However, the evolution of positively …

Somatic mosaicism, the occurrence of multiple genetically distinct cell clones within the
same tissue, is an evitable consequence of human aging. The hematopoietic system is no …

Compelling evidence in Caucasian populations suggests a role for copy-number variations
(CNVs) in autism spectrum disorder (ASD) and schizophrenia (SCZ). We analyzed 1,108 …

BACKGROUND Elucidating the genetic architecture of neuropsychiatric disorders remains a
major scientific and medical challenge. Emerging genomic technologies now permit the …

Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …

Background Identification of germline variation and somatic mutations is a major issue in
human genetics. However, due to the limitations of DNA sequencing technologies and …

Developing synchronous bilateral Wilms tumor suggests an underlying (epi) genetic
predisposition. Here, we evaluate this predisposition in 68 patients using whole exome or …

The structure of the human neocortex underlies species-specific traits and reflects intricate
developmental programs. Here we sought to reconstruct processes that occur during early …

De novo mutations arising on the paternal chromosome make the largest known contribution
to autism risk, and correlate with paternal age at the time of conception. The recurrence risk …

Mosaic variants (MVs) reflect mutagenic processes during embryonic development and
environmental exposure, accumulate with aging and underlie diseases such as cancer and …