Variant calling and benchmarking in an era of complete human genome sequences
Genetic variant calling from DNA sequencing has enabled understanding of germline
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …
Measuring and interpreting transposable element expression
S Lanciano, G Cristofari - Nature Reviews Genetics, 2020 - nature.com
Transposable elements (TEs) are insertional mutagens that contribute greatly to the
plasticity of eukaryotic genomes, influencing the evolution and adaptation of species as well …
plasticity of eukaryotic genomes, influencing the evolution and adaptation of species as well …
Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function
Understanding gene function and regulation in homeostasis and disease requires
knowledge of the cellular and tissue contexts in which genes are expressed. Here, we …
knowledge of the cellular and tissue contexts in which genes are expressed. Here, we …
A multi-tissue atlas of regulatory variants in cattle
Abstract Characterization of genetic regulatory variants acting on livestock gene expression
is essential for interpreting the molecular mechanisms underlying traits of economic value …
is essential for interpreting the molecular mechanisms underlying traits of economic value …
Analyses of non-coding somatic drivers in 2,658 cancer whole genomes
E Rheinbay, MM Nielsen, F Abascal, JA Wala… - Nature, 2020 - nature.com
The discovery of drivers of cancer has traditionally focused on protein-coding genes,,–. Here
we present analyses of driver point mutations and structural variants in non-coding regions …
we present analyses of driver point mutations and structural variants in non-coding regions …
Grey wolf genomic history reveals a dual ancestry of dogs
The grey wolf (Canis lupus) was the first species to give rise to a domestic population, and
they remained widespread throughout the last Ice Age when many other large mammal …
they remained widespread throughout the last Ice Age when many other large mammal …
Tracing the evolutionary history and global expansion of Candida auris using population genomic analyses
Candida auris has emerged globally as a multidrug-resistant yeast that can spread via
nosocomial transmission. An initial phylogenetic study of isolates from Japan, India …
nosocomial transmission. An initial phylogenetic study of isolates from Japan, India …
Mapping and characterization of structural variation in 17,795 human genomes
A key goal of whole-genome sequencing for studies of human genetics is to interrogate all
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …
Multimodal analysis of cell-free DNA whole-genome sequencing for pediatric cancers with low mutational burden
Sequencing of cell-free DNA in the blood of cancer patients (liquid biopsy) provides
attractive opportunities for early diagnosis, assessment of treatment response, and minimally …
attractive opportunities for early diagnosis, assessment of treatment response, and minimally …
A dominant-negative effect drives selection of TP53 missense mutations in myeloid malignancies
TP53, which encodes the tumor suppressor p53, is the most frequently mutated gene in
human cancer. The selective pressures shaping its mutational spectrum, dominated by …
human cancer. The selective pressures shaping its mutational spectrum, dominated by …