Lista de obras - Yana Bromberg - Dominio Público Uruguay

Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants

artículo científico publicado en 2019

Assessment of methods for predicting the effects of PTEN and TPMT protein variants

scientific article published on 03 July 2019

Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016

artículo científico publicado en 2019

Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies

scientific article published on 25 April 2013

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study

scientific article published on 17 December 2008

Better prediction of functional effects for sequence variants

artículo científico publicado en 2015

Bioinformatics for personal genome interpretation

artículo científico publicado en 2012

Building a genome analysis pipeline to predict disease risk and prevent disease

artículo científico

COMPUTATIONAL APPROACHES TO STUDY MICROBES AND MICROBIOMES.

artículo científico publicado en 2016

Chapter 15: disease gene prioritization

artículo científico publicado en 2013

Collective judgment predicts disease-associated single nucleotide variants

artículo científico publicado en 2013

Common sequence variants affect molecular function more than rare variants?

artículo científico publicado en 2017

Comparative genomic and physiological analysis provides insights into the role of Acidobacteria in organic carbon utilization in Arctic tundra soils

artículo científico publicado en 2012

Comprehensive in silico mutagenesis highlights functionally important residues in proteins

artículo científico publicado en 2008

Computational prediction shines light on type III secretion origins

artículo científico publicado en 2016

Conserved amino acids within the adenovirus 2 E3/19K protein differentially affect downregulation of MHC class I and MICA/B proteins

artículo científico publicado en 2009

Correlating protein function and stability through the analysis of single amino acid substitutions.

artículo científico publicado en 2009

Disease-related mutations predicted to impact protein function

artículo científico publicado en 2012

Evolutionary history of redox metal-binding domains across the tree of life

artículo científico publicado en 2014

Function-based assessment of structural similarity measurements using metal co-factor orientation

artículo científico publicado en 2013

Functional Basis of Microorganism Classification

artículo científico publicado en 2015

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

artículo científico publicado en 2010

Identifying mutation-driven changes in gene functionality that lead to venous thromboembolism

artículo científico publicado en 2019

In silico mutagenesis: a case study of the melanocortin 4 receptor

artículo científico publicado en 2009

Inferring Potential Cancer Driving Synonymous Variants

artículo científico publicado en 2022

Mapping of Mcs30, a new mammary carcinoma susceptibility quantitative trait locus (QTL30) on rat chromosome 12: identification of fry as a candidate Mcs gene

artículo científico publicado en 2013

MuD: an interactive web server for the prediction of non-neutral substitutions using protein structural data

artículo científico publicado en 2010

MuD: an interactive web server for the prediction of non-neutral substitutions using protein structural data.

artículo científico publicado en 2010

Neutral and weakly nonneutral sequence variants may define individuality

artículo científico publicado en 2013

New in protein structure and function annotation: hotspots, single nucleotide polymorphisms and the 'Deep Web'.

artículo científico publicado en 2009

News from the protein mutability landscape

artículo científico

Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI.

artículo científico publicado en 2017

Positional cloning of "Lisch-Like", a candidate modifier of susceptibility to type 2 diabetes in mice

artículo científico publicado en 2008

PredictProtein - Predicting Protein Structure and Function for 29 Years

scientific article published on 11 May 2021

PredictProtein--an open resource for online prediction of protein structural and functional features

artículo científico publicado en 2014

Predicted Molecular Effects of Sequence Variants Link to System Level of Disease

artículo científico publicado en 2016

Protein function in precision medicine: deep understanding with machine learning

artículo científico publicado en 2016

Quantum correlations in two-particle Anderson localization

artículo científico publicado en 2010

SNAP predicts effect of mutations on protein function

artículo científico publicado en 2008

SNAP: predict effect of non-synonymous polymorphisms on function

artículo científico publicado en 2007

SNP-SIG Meeting 2011: identification and annotation of SNPs in the context of structure, function, and disease

artículo científico publicado en 2012

SNPdbe: constructing an nsSNP functional impacts database

artículo científico publicado en 2011

Snow microbiome functional analyses reveal novel aspects of microbial metabolism of complex organic compounds

scientific article published on 06 August 2020

Ten simple rules for drawing scientific comics

artículo científico publicado en 2018

The young PI buzz: learning from the organizers of the Junior Principal Investigator Meeting at ISMB-ECCB 2013.

artículo científico publicado en 2013

Thoughts from SNP-SIG 2012: future challenges in the annotation of genetic variations

artículo científico publicado en 2013

TrAnsFuSE refines the search for protein function: oxidoreductases

artículo científico publicado en 2012

VarI-SIG 2014--From SNPs to variants: interpreting different types of genetic variants

artículo científico publicado en 2015

VarI-SIG 2015: methods for personalized medicine - the role of variant interpretation in research and diagnostics

artículo científico publicado en 2016

What went wrong with variant effect predictor performance for the PCM1 challenge

artículo científico publicado en 2019

Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility

artículo científico publicado en 2016

clubber: removing the bioinformatics bottleneck in big data analyses

artículo científico publicado en 2017

funtrp: identifying protein positions for variation driven functional tuning

artículo científico publicado en 2019

Lista de obras de Yana Bromberg

Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants

Assessment of methods for predicting the effects of PTEN and TPMT protein variants

Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016

Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study

Better prediction of functional effects for sequence variants

Bioinformatics for personal genome interpretation

Building a genome analysis pipeline to predict disease risk and prevent disease

COMPUTATIONAL APPROACHES TO STUDY MICROBES AND MICROBIOMES.

Chapter 15: disease gene prioritization

Collective judgment predicts disease-associated single nucleotide variants

Common sequence variants affect molecular function more than rare variants?

Comparative genomic and physiological analysis provides insights into the role of Acidobacteria in organic carbon utilization in Arctic tundra soils

Comprehensive in silico mutagenesis highlights functionally important residues in proteins

Computational prediction shines light on type III secretion origins

Conserved amino acids within the adenovirus 2 E3/19K protein differentially affect downregulation of MHC class I and MICA/B proteins

Correlating protein function and stability through the analysis of single amino acid substitutions.

Disease-related mutations predicted to impact protein function

Evolutionary history of redox metal-binding domains across the tree of life

Function-based assessment of structural similarity measurements using metal co-factor orientation

Functional Basis of Microorganism Classification

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

Identifying mutation-driven changes in gene functionality that lead to venous thromboembolism

In silico mutagenesis: a case study of the melanocortin 4 receptor

Inferring Potential Cancer Driving Synonymous Variants

Mapping of Mcs30, a new mammary carcinoma susceptibility quantitative trait locus (QTL30) on rat chromosome 12: identification of fry as a candidate Mcs gene

MuD: an interactive web server for the prediction of non-neutral substitutions using protein structural data

MuD: an interactive web server for the prediction of non-neutral substitutions using protein structural data.

Neutral and weakly nonneutral sequence variants may define individuality

New in protein structure and function annotation: hotspots, single nucleotide polymorphisms and the 'Deep Web'.

News from the protein mutability landscape

Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI.

Positional cloning of "Lisch-Like", a candidate modifier of susceptibility to type 2 diabetes in mice

PredictProtein - Predicting Protein Structure and Function for 29 Years

PredictProtein--an open resource for online prediction of protein structural and functional features

Predicted Molecular Effects of Sequence Variants Link to System Level of Disease

Protein function in precision medicine: deep understanding with machine learning

Quantum correlations in two-particle Anderson localization

SNAP predicts effect of mutations on protein function

SNAP: predict effect of non-synonymous polymorphisms on function

SNP-SIG Meeting 2011: identification and annotation of SNPs in the context of structure, function, and disease

SNPdbe: constructing an nsSNP functional impacts database

Snow microbiome functional analyses reveal novel aspects of microbial metabolism of complex organic compounds

Ten simple rules for drawing scientific comics

The young PI buzz: learning from the organizers of the Junior Principal Investigator Meeting at ISMB-ECCB 2013.

Thoughts from SNP-SIG 2012: future challenges in the annotation of genetic variations

TrAnsFuSE refines the search for protein function: oxidoreductases

VarI-SIG 2014--From SNPs to variants: interpreting different types of genetic variants

VarI-SIG 2015: methods for personalized medicine - the role of variant interpretation in research and diagnostics

What went wrong with variant effect predictor performance for the PCM1 challenge

Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility

clubber: removing the bioinformatics bottleneck in big data analyses

funtrp: identifying protein positions for variation driven functional tuning