Structural variation in the sequencing era
Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …
historically difficult due to limitations inherent to available genome technologies. Detection …
Systems biology in cardiovascular disease: a multiomics approach
Omics techniques generate large, multidimensional data that are amenable to analysis by
new informatics approaches alongside conventional statistical methods. Systems theories …
new informatics approaches alongside conventional statistical methods. Systems theories …
A highly sensitive CRISPR‐empowered surface plasmon resonance sensor for diagnosis of inherited diseases with femtomolar‐level real‐time quantification
The clustered regularly interspaced short palindromic repeats (CRISPR) molecular system
has emerged as a promising technology for the detection of nucleic acids. Herein, the …
has emerged as a promising technology for the detection of nucleic acids. Herein, the …
[HTML][HTML] A comparative genomics multitool for scientific discovery and conservation
Nature, 2020 - nature.com
Abstract The Zoonomia Project is investigating the genomics of shared and specialized traits
in eutherian mammals. Here we provide genome assemblies for 131 species, of which all …
in eutherian mammals. Here we provide genome assemblies for 131 species, of which all …
Leveraging base-pair mammalian constraint to understand genetic variation and human disease
Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …
attempts to elucidate biological mechanisms are impeded by an inability to discern which …
Decoding disease: from genomes to networks to phenotypes
AK Wong, RSG Sealfon, CL Theesfeld… - Nature Reviews …, 2021 - nature.com
Interpreting the effects of genetic variants is key to understanding individual susceptibility to
disease and designing personalized therapeutic approaches. Modern experimental …
disease and designing personalized therapeutic approaches. Modern experimental …
[HTML][HTML] Genetic modifiers and rare Mendelian disease
KMTH Rahit, M Tarailo-Graovac - Genes, 2020 - mdpi.com
Despite advances in high-throughput sequencing that have revolutionized the discovery of
gene defects in rare Mendelian diseases, there are still gaps in translating individual …
gene defects in rare Mendelian diseases, there are still gaps in translating individual …
[HTML][HTML] Is it time to change the reference genome?
The use of the human reference genome has shaped methods and data across modern
genomics. This has offered many benefits while creating a few constraints. In the following …
genomics. This has offered many benefits while creating a few constraints. In the following …
[HTML][HTML] Centers for Mendelian Genomics: A decade of facilitating gene discovery
Purpose Mendelian disease genomic research has undergone a massive transformation
over the past decade. With increasing availability of exome and genome sequencing, the …
over the past decade. With increasing availability of exome and genome sequencing, the …
[HTML][HTML] Analyses of rare predisposing variants of lung cancer in 6,004 whole genomes in Chinese
C Wang, J Dai, N Qin, J Fan, H Ma, C Chen, M An… - Cancer Cell, 2022 - cell.com
We present the largest whole-genome sequencing (WGS) study of non-small cell lung
cancer (NSCLC) to date among 6,004 individuals of Chinese ancestry, coupled with 23,049 …
cancer (NSCLC) to date among 6,004 individuals of Chinese ancestry, coupled with 23,049 …