Machine learning SNP based prediction for precision medicine
In the past decade, precision genomics based medicine has emerged to provide tailored
and effective healthcare for patients depending upon their genetic features. Genome Wide …
and effective healthcare for patients depending upon their genetic features. Genome Wide …
Hydrological modeling of the Silala River basin. 2. Validation of hydrological fluxes with contemporary data
G Yáñez‐Morroni, F Suárez, JF Muñoz… - Wiley Interdisciplinary …, 2024 - Wiley Online Library
A companion paper in this Special Issue reviewed the development of a hydrological model
of the Silala River basin, using long‐term data (1969–1992) to determine the basin's water …
of the Silala River basin, using long‐term data (1969–1992) to determine the basin's water …
The advantages of the Matthews correlation coefficient (MCC) over F1 score and accuracy in binary classification evaluation
Background To evaluate binary classifications and their confusion matrices, scientific
researchers can employ several statistical rates, accordingly to the goal of the experiment …
researchers can employ several statistical rates, accordingly to the goal of the experiment …
Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
Accurate deleteriousness prediction for nonsynonymous variants is crucial for distinguishing
pathogenic mutations from background polymorphisms in whole exome sequencing (WES) …
pathogenic mutations from background polymorphisms in whole exome sequencing (WES) …
Exomic variants of an elderly cohort of Brazilians in the ABraOM database
MS Naslavsky, GL Yamamoto, TF de Almeida… - Human …, 2017 - Wiley Online Library
Brazilians are highly admixed with ancestry from Europe, Africa, America, and Asia and yet
still underrepresented in genomic databanks. We hereby present a collection of exomic …
still underrepresented in genomic databanks. We hereby present a collection of exomic …
Six distinct NFκB signaling codons convey discrete information to distinguish stimuli and enable appropriate macrophage responses
Macrophages initiate inflammatory responses via the transcription factor NFκB. The temporal
pattern of NFκB activity determines which genes are expressed and thus, the type of …
pattern of NFκB activity determines which genes are expressed and thus, the type of …
Molecular mechanisms of disease-causing missense mutations
Genetic variations resulting in a change of amino acid sequence can have a dramatic effect
on stability, hydrogen bond network, conformational dynamics, activity and many other …
on stability, hydrogen bond network, conformational dynamics, activity and many other …
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity
DG Grimm, CA Azencott, F Aicheler, U Gieraths… - Human …, 2015 - Wiley Online Library
Prioritizing missense variants for further experimental investigation is a key challenge in
current sequencing studies for exploring complex and Mendelian diseases. A large number …
current sequencing studies for exploring complex and Mendelian diseases. A large number …
Predicting the functional consequences of cancer-associated amino acid substitutions
Motivation: The number of missense mutations being identified in cancer genomes has
greatly increased as a consequence of technological advances and the reduced cost of …
greatly increased as a consequence of technological advances and the reduced cost of …
PON-P2: prediction method for fast and reliable identification of harmful variants
More reliable and faster prediction methods are needed to interpret enormous amounts of
data generated by sequencing and genome projects. We have developed a new …
data generated by sequencing and genome projects. We have developed a new …