Native American gene flow into Polynesia predating Easter Island settlement
The possibility of voyaging contact between prehistoric Polynesian and Native American
populations has long intrigued researchers. Proponents have pointed to the existence of …
populations has long intrigued researchers. Proponents have pointed to the existence of …
Ensembl variation resources
SE Hunt, W McLaren, L Gil, A Thormann… - Database, 2018 - academic.oup.com
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 …
between genomic variation, phenotype and disease. There are numerous valuable and well …
[HTML][HTML] Genome maps across 26 human populations reveal population-specific patterns of structural variation
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 …
conventional sequencing technologies. With long-range genome analysis platforms, such as …
[HTML][HTML] Single-cell multiomic profiling of human lungs reveals cell-type-specific and age-dynamic control of SARS-CoV2 host genes
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 …
present single-nucleus accessible chromatin profiles of 90,980 nuclei and matched single …
m6AVar: a database of functional variants involved in m6A modification
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 …
(SNVs) is still a major challenge. Recently, N 6-methyladenosine (m6A) has become a …
Predicting the clinical impact of human mutation with deep neural networks
Millions of human genomes and exomes have been sequenced, but their clinical
applications remain limited due to the difficulty of distinguishing disease-causing mutations …
applications remain limited due to the difficulty of distinguishing disease-causing mutations …
[HTML][HTML] Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression
P Gao, Q Lyu, AR Ghanam, CR Lazzarotto, GA Newby… - Genome biology, 2021 - Springer
Background Most single nucleotide variants (SNVs) occur in noncoding sequence where
millions of transcription factor binding sites (TFBS) reside. Here, a comparative analysis of …
millions of transcription factor binding sites (TFBS) reside. Here, a comparative analysis of …
VarCards: an integrated genetic and clinical database for coding variants in the human genome
J Li, L Shi, K Zhang, Y Zhang, S Hu, T Zhao… - Nucleic acids …, 2018 - academic.oup.com
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 …
interpretation of genomic variants, particularly in coding regions. However, these tools are …
[HTML][HTML] Evolution and cell-type specificity of human-specific genes preferentially expressed in progenitors of fetal neocortex
Understanding the molecular basis that underlies the expansion of the neocortex during
primate, and notably human, evolution requires the identification of genes that are …
primate, and notably human, evolution requires the identification of genes that are …
[HTML][HTML] Systematic identification of mutations and copy number alterations associated with cancer patient prognosis
JC Smith, JM Sheltzer - elife, 2018 - elifesciences.org
Successful treatment decisions in cancer depend on the accurate assessment of patient risk.
To improve our understanding of the molecular alterations that underlie deadly …
To improve our understanding of the molecular alterations that underlie deadly …