Variation in the mutation rate across mammalian genomes
It has been known for many years that the mutation rate varies across the genome. However,
only with the advent of large genomic data sets is the full extent of this variation becoming …
only with the advent of large genomic data sets is the full extent of this variation becoming …
Bioinformatics and drug discovery
X **a - Current topics in medicinal chemistry, 2017 - ingentaconnect.com
Bioinformatic analysis can not only accelerate drug target identification and drug candidate
screening and refinement, but also facilitate characterization of side effects and predict drug …
screening and refinement, but also facilitate characterization of side effects and predict drug …
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …
The contribution of de novo coding mutations to autism spectrum disorder
Whole exome sequencing has proven to be a powerful tool for understanding the genetic
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …
[HTML][HTML] Whole-genome sequencing in autism identifies hot spots for de novo germline mutation
JJ Michaelson, Y Shi, M Gujral, H Zheng, D Malhotra… - Cell, 2012 - cell.com
De novo mutation plays an important role in autism spectrum disorders (ASDs). Notably,
pathogenic copy number variants (CNVs) are characterized by high mutation rates. We …
pathogenic copy number variants (CNVs) are characterized by high mutation rates. We …
Sequencing of human genomes with nanopore technology
Whole-genome sequencing (WGS) is becoming widely used in clinical medicine in
diagnostic contexts and to inform treatment choice. Here we evaluate the potential of the …
diagnostic contexts and to inform treatment choice. Here we evaluate the potential of the …
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Abstract Multi-nucleotide variants (MNVs), defined as two or more nearby variants existing
on the same haplotype in an individual, are a clinically and biologically important class of …
on the same haplotype in an individual, are a clinically and biologically important class of …
The divergence of mutation rates and spectra across the Tree of Life
Owing to advances in genome sequencing, genome stability has become one of the most
scrutinized cellular traits across the Tree of Life. Despite its centrality to all things biological …
scrutinized cellular traits across the Tree of Life. Despite its centrality to all things biological …
Properties and rates of germline mutations in humans
All genetic variation arises via new mutations; therefore, determining the rate and biases for
different classes of mutation is essential for understanding the genetics of human disease …
different classes of mutation is essential for understanding the genetics of human disease …
The Mutationathon highlights the importance of reaching standardization in estimates of pedigree-based germline mutation rates
In the past decade, several studies have estimated the human per-generation germline
mutation rate using large pedigrees. More recently, estimates for various nonhuman species …
mutation rate using large pedigrees. More recently, estimates for various nonhuman species …