The possibility of voyaging contact between prehistoric Polynesian and Native American
populations has long intrigued researchers. Proponents have pointed to the existence of …

The major goal of sequencing humans and many other species is to understand the link
between genomic variation, phenotype and disease. There are numerous valuable and well …

Large structural variants (SVs) in the human genome are difficult to detect and study by
conventional sequencing technologies. With long-range genome analysis platforms, such as …

Respiratory failure associated with COVID-19 has placed focus on the lungs. Here, we
present single-nucleus accessible chromatin profiles of 90,980 nuclei and matched single …

Identifying disease-causing variants among a large number of single nucleotide variants
(SNVs) is still a major challenge. Recently, N 6-methyladenosine (m6A) has become a …

Millions of human genomes and exomes have been sequenced, but their clinical
applications remain limited due to the difficulty of distinguishing disease-causing mutations …

Background Most single nucleotide variants (SNVs) occur in noncoding sequence where
millions of transcription factor binding sites (TFBS) reside. Here, a comparative analysis of …

A growing number of genomic tools and databases were developed to facilitate the
interpretation of genomic variants, particularly in coding regions. However, these tools are …

Understanding the molecular basis that underlies the expansion of the neocortex during
primate, and notably human, evolution requires the identification of genes that are …

Successful treatment decisions in cancer depend on the accurate assessment of patient risk.
To improve our understanding of the molecular alterations that underlie deadly …