The reference human genome sequence is inarguably the most important and widely used
resource in the fields of human genetics and genomics. It has transformed the conduct of …

The human genome contains multiple layers of information that extend beyond the genetic
sequence. In fact, identical genetics do not necessarily yield identical phenotypes as evident …

The gene numbers and evolutionary rates of birds were assumed to be much lower than
those of mammals, which is in sharp contrast to the huge species number and …

As whole-genome sequencing (WGS) becomes the gold standard tool for studying
population genomics and medical applications, data on diverse non-European and admixed …

Many genomic analyses start by aligning sequencing reads to a linear reference genome.
However, linear reference genomes are imperfect, lacking millions of bases of unknown …

Population allele frequency is crucially important for accurate interpretation of known and
novel variants in medical genetics. Recently, several large allele frequency databases, such …

Complete datasets of genetic variants are key to biodiversity genomic studies. Long-read
sequencing technologies allow the routine assembly of highly contiguous, haplotype …

Nonreference sequences (NRSs) are DNA sequences present in global populations but
absent in the current human reference genome. However, the extent and functional …

Background In light of recent retrospective studies revealing evidence of disparities in
access to medical technology and of bias in measurements, this narrative review assesses …

The placenta controls the growth of the fetus and ensures its immune protection. Key to
these functions, the syncytiotrophoblast (SYN) is a syncytium formed by fusion of underlying …