Do long noncoding RNAs (lncRNAs) contribute little or substantively to human biology? To
address how lncRNA loci and their transcripts, structures, interactions, and functions …

Compared to most mammals, human pregnancy is unusual in that it involves chromosomally
diverse embryos, cyclical breakdown and regeneration of the uterine mucosa, and intimate …

Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …

Causal loss-of-function (LOF) variants for Mendelian and severe complex diseases are
enriched in'mutation intolerant'genes. We show how such observations can be interpreted in …

Deleterious genetic variation is abundant in wild populations, and understanding the
ecological and conservation implications of such variation is an area of active research …

De novo mutations occur at substantially different rates depending on genomic location,
sequence context and DNA strand. The success of methods to estimate selection intensity …

Author summary Across the human genome, there are large-scale fluctuations in genetic
diversity caused by the indirect effects of selection. This “linked selection signal” reflects the …

Summary lncRNA research is passing the stage of enumerating lncRNAs or recording
simplified on-off expression switches. Mechanistic analyses are starting to reveal …

Across the human genome, there are nearly 500 'ultraconserved'elements: regions of at
least 200 contiguous nucleotides that are perfectly conserved in both the mouse and rat …

Background The high incidence of aneuploidy in early human development, arising either
from errors in meiosis or postzygotic mitosis, is the primary cause of pregnancy loss …