Modeling correlated mutations in cancer for personalized treatment.
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Analysis of somatic mutation profiles from cancer patients is essential in the development of cancer research. However, the low frequency of most mutations and the varying rates of mutations across patients makes the data extremely challenging to statistically analyze as well as difficult to use in classification probl…
The genomic profile underlying an individual tumor can be highly informative in the creation of a personalized cancer treatment strategy for a given patient; a practice known as precision oncology. This involves next generation sequencing of a tumor sample and the subsequent identification of genomic aberrations, such …
In this study, we present Flatsomatic - a Variational Auto Encoder (VAE) optimized to compress somatic mutations that allow for unbiased data compression whilst maintaining the signal. We compared two different neural network architectures for the VAE: Multilayer Perceptron (MLP) and bidirectional LSTM. The somatic pro…
Tumors often contain multiple subpopulations of cancerous cells defined by distinct somatic mutations. We describe a new method, PhyloWGS, that can be applied to WGS data from one or more tumor samples to reconstruct complete genotypes of these subpopulations based on variant allele frequencies (VAFs) of point mutation…
The emerging field of precision oncology relies on the accurate pinpointing of alterations in the molecular profile of a tumor to provide personalized targeted treatments. Current methodologies in the field commonly include the application of next generation sequencing technologies to a tumor sample, followed by the id…
The recent adoption of Electronic Health Records (EHRs) by health care providers has introduced an important source of data that provides detailed and highly specific insights into patient phenotypes over large cohorts. These datasets, in combination with machine learning and statistical approaches, generate new opport…
High-throughput sequencing allows the detection and quantification of frequencies of somatic single nucleotide variants (SNV) in heterogeneous tumor cell populations. In some cases, the evolutionary history and population frequency of the subclonal lineages of tumor cells present in the sample can be reconstructed from…
A new method combines multiple cancer datasets to improve analysis.
We present a novel method for extracting cancer signatures by applying statistical risk models (http://ssrn.com/abstract=2732453) from quantitative finance to cancer genome data. Using 1389 whole genome sequenced samples from 14 cancers, we identify an "overall" mode of somatic mutational noise. We give a prescription …
Many contemporary statistical learning methods assume a Euclidean feature space. This paper presents a method for defining similarity based on hyperspherical geometry and shows that it often improves the performance of support vector machine compared to other competing similarity measures. Specifically, the idea of usi…
Sparse coding has been popularly used as an effective data representation method in various applications, such as computer vision, medical imaging and bioinformatics, etc. However, the conventional sparse coding algorithms and its manifold regularized variants (graph sparse coding and Laplacian sparse coding), learn th…
The medical research facilitates to acquire a diverse type of data from the same individual for particular cancer. Recent studies show that utilizing such diverse data results in more accurate predictions. The major challenge faced is how to utilize such diverse data sets in an effective way. In this paper, we introduc…
Transposable Elements (TEs) or jumping genes are the DNA sequences that have an intrinsic capability to move within a host genome from one genomic location to another. Studies show that the presence of a TE within or adjacent to a functional gene may alter its expression. TEs can also cause an increase in the rate of m…
Genus 2 mutation is the process of cutting a 3-manifold along an embedded closed genus 2 surface, twisting by the hyper-elliptic involution, and gluing back. This paper compares genus 2 mutation with the better-known Conway mutation in the context of knots in the 3-sphere. Despite the fact that any Conway mutation can …
Learning the structure of dependencies among multiple random variables is a problem of considerable theoretical and practical interest. Within the context of Bayesian Networks, a practical and surprisingly successful solution to this learning problem is achieved by adopting score-functions optimisation schema, augmente…
Improved genetic programming by optimizing mutation operators for continuous program search.
We define a link homology theory that is readily seen to be both isomorphic to reduced odd Khovanov homology and fully determined by data impervious to Conway mutation. This gives an elementary proof that odd Khovanov homology is mutation invariant, and therefore that mod 2 Khovanov homology is mutation invariant. We a…
We give a new, elementary proof that Khovanov homology with --coefficients is invariant under Conway mutation. This proof also gives a strategy to prove Baldwin and Levine's conjecture that --graded knot Floer homology is mutation--invariant. Using the Clifford module structure on $\widetilde…
Mathematician summarizes protein geometry and mutation effects.
We study the effect of mutation on link concordance and 3-manifolds. We show that the set of links concordant to sublinks of homology boundary links is not closed under positive mutation. We show that mutation does not preserve homology cobordism classes of 3-manifolds. A significant consequence is that there exist 3-m…
Khovanov homology invariant under Conway mutation.
Mutation graph of support τ-tilting modules over skew-gentle algebras is connected.
The paper studies alternating links in thickened surfaces using flow lattices and disc mutations.
Paper tackles gene mutation prediction for HCC using multi-instance multi-label learning.
We introduce a property of mutation loops, called the sign stability, with a focus on an asymptotic behavior of the iteration of the tropical -transformation. A sign-stable mutation loop has a numerical invariant which we call the cluster stretch factor, in analogy with that of a pseudo-Anosov mapping clas…
We show that instanton knot homology is mutation-invariant, as a consequence of earlier work of the third author.
We introduce an exploratory study on Mutation Validation (MV), a model validation method using mutated training labels for supervised learning. MV mutates training data labels, retrains the model against the mutated data, then uses the metamorphic relation that captures the consequent training performance changes to as…
We construct finite volume hyperbolic manifolds with large symmetry groups. The construction makes use of the presentations of finite Coxeter groups provided by Barot and Marsh and involves mutations of quivers and diagrams defined in the theory of cluster algebras. We generalize our construction by assigning to every …
We prove that generalized mutation preserves several geometric invariants such as the volume and Goncharov invariant of Q-rank 1 locally symmetric spaces.
EDAs with matrix transpose improve Bayesian structure learning performance.
The study explores properties and mutations in oriented matroids, proving new results on Euclidean and non-Euclidean structures.
We show that the reduced sl(n) homology defined by Khovanov and Rozansky is invariant under component-preserving positive mutation when n is odd.
We prove that Khovanov homology and Lee homology with coefficients in are invariant under component-preserving link mutations.
We give a short topological proof for Rubermans Theorem about mutation and volume, using the Maskit combination theorem and the homology of the linear group.
In this paper, we explicitly construct large classes of incommensurable hyperbolic knot complements with the same volume and the same initial (complex) length spectrum. Furthermore, we show that these knot complements are the only knot complements in their respective commensurabiltiy classes by analyzing their cusp sha…
For the alternating knots or links, mutations do not change the arc index. In the case of nonalternating knots, some semi-alternating knots or links have this property. We mainly focus on the problem of mutation invariance of the arc index for nonalternating knots which are not semi-alternating. In this paper, we found…
We describe and investigate a connection between the topology of isolated singularities of plane curves and the mutation equivalence, in the sense of cluster algebra theory, of the quivers associated with their morsifications.
Motivation: HIV is difficult to treat because its virus mutates at a high rate and mutated viruses easily develop resistance to existing drugs. If the relationships between mutations and drug resistances can be determined from historical data, patients can be provided personalized treatment according to their own mutat…
Given a hyperbolic knot, we prove that the Reidemeister torsion of any lift of the holonomy to SL(2,C) is invariant under mutation along a Conway sphere.
Mutation is an operation on 3-manifolds containing an embedded surface of genus 2. It is defined by cutting along the surface and regluing using the `hyperelliptic' involution, and is known to preserve many 3-manifold invariants. I show that mutation of a homology 3-sphere preserves its (instanton) Floer homology, and …
MutaGAN predicts mutations of evolving protein populations using GANs.
Determining the primary site of origin for metastatic tumors is one of the open problems in cancer care because the efficacy of treatment often depends on the cancer tissue of origin. Classification methods that can leverage tumor genomic data and predict the site of origin are therefore of great value. Because tumor D…
PANDA predicts protein binding affinity changes from sequences, outperforming existing methods.
New flows represent Thurston norm ball faces, differing by veering mutations.
It is conjectured that the Khovanov homology of a knot is invariant under mutation. In this paper, we review the spanning tree complex for Khovanov homology, and reformulate this conjecture using a matroid obtained from the Tait graph (checkerboard graph) G of a knot diagram K. The spanning trees of G provide a filtrat…
This paper establishes that sutured annular Khovanov homology is not invariant for braid closures under axis-preserving mutations. This follows from an explicit relationship between sutured annular Khovanov homology and the classical Burau representation for braid closures.
In this paper, we prove that the Reidemeister torsion twisted by the adjoint representation, which is considered as a 1-form, on the SU(2)-character variety of a knot exterior is invariant under mutation along a Conway sphere.