Functional variomics and network perturbation: connecting genotype to phenotype in cancer
Proteins interact with other macromolecules in complex cellular networks for signal
transduction and biological function. In cancer, genetic aberrations have been traditionally …
transduction and biological function. In cancer, genetic aberrations have been traditionally …
[HTML][HTML] The structural coverage of the human proteome before and after AlphaFold
The protein structure field is experiencing a revolution. From the increased throughput of
techniques to determine experimental structures, to developments such as cryo-EM that …
techniques to determine experimental structures, to developments such as cryo-EM that …
In‐depth and 3‐dimensional exploration of the budding yeast phosphoproteome
Phosphorylation is one of the most dynamic and widespread post‐translational
modifications regulating virtually every aspect of eukaryotic cell biology. Here, we assemble …
modifications regulating virtually every aspect of eukaryotic cell biology. Here, we assemble …
3D clusters of somatic mutations in cancer reveal numerous rare mutations as functional targets
Many mutations in cancer are of unknown functional significance. Standard methods use
statistically significant recurrence of mutations in tumor samples as an indicator of functional …
statistically significant recurrence of mutations in tumor samples as an indicator of functional …
Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma
Follicular lymphoma (FL) is the most common form of indolent non-Hodgkin lymphoma, yet it
remains only partially characterized at the genomic level. To improve our understanding of …
remains only partially characterized at the genomic level. To improve our understanding of …
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants
Interpretation of the colossal number of genetic variants identified from sequencing
applications is one of the major bottlenecks in clinical genetics, with the inference of the …
applications is one of the major bottlenecks in clinical genetics, with the inference of the …
Mutational signatures and mutable motifs in cancer genomes
IB Rogozin, YI Pavlov, A Goncearenco… - Briefings in …, 2018 - academic.oup.com
Cancer is a genetic disorder, meaning that a plethora of different mutations, whether somatic
or germ line, underlie the etiology of the 'Emperor of Maladies'. Point mutations …
or germ line, underlie the etiology of the 'Emperor of Maladies'. Point mutations …
The 3D mutational constraint on amino acid sites in the human proteome
Quantification of the tolerance of protein sites to genetic variation has become a cornerstone
of variant interpretation. We hypothesize that the constraint on missense variation at …
of variant interpretation. We hypothesize that the constraint on missense variation at …
In-depth cell-free DNA sequencing reveals genomic landscape of Hodgkin's lymphoma and facilitates ultrasensitive residual disease detection
S Sobesky, L Mammadova, M Cirillo, EEE Drees… - Med, 2021 - cell.com
Background Individualization of treatment in Hodgkin's lymphoma is necessary to improve
cure rates and reduce treatment side effects. Currently, it is hindered by a lack of genomic …
cure rates and reduce treatment side effects. Currently, it is hindered by a lack of genomic …
Bayesian inference of negative and positive selection in human cancers
D Weghorn, S Sunyaev - Nature genetics, 2017 - nature.com
Cancer genomics efforts have identified genes and regulatory elements driving cancer
development and neoplastic progression. From a microevolution standpoint, these are …
development and neoplastic progression. From a microevolution standpoint, these are …