Lista de obras - Alexej Abyzov - Dominio Público Uruguay

A comprehensive analysis of non-sequential alignments between all protein structures

artículo científico publicado en 2007

A uniform survey of allele-specific binding and expression over 1000-Genomes-Project individuals

artículo científico publicado en 2016

AGE: defining breakpoints of genomic structural variants at single-nucleotide resolution, through optimal alignments with gap excision

artículo científico publicado en 2011

Active site prediction for comparative model structures with thematics

artículo científico publicado en 2005

AlleleSeq: analysis of allele-specific expression and binding in a network framework

artículo científico publicado en 2011

An AP endonuclease 1-DNA polymerase beta complex: theoretical prediction of interacting surfaces

artículo científico publicado en 2008

An integrated map of structural variation in 2,504 human genomes

artículo científico publicado en 2015

Analysis of combinatorial regulation: scaling of partnerships between regulators with the number of governed targets

artículo científico publicado en 2010

Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms ⬇️

artículo científico publicado en 2015

Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division

artículo científico publicado en 2013

Annual Research Review: The promise of stem cell research for neuropsychiatric disorders

artículo científico publicado en 2011

Architecture of the human regulatory network derived from ENCODE data

artículo científico publicado en 2012

CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

artículo científico publicado en 2011

Child development and structural variation in the human genome

artículo científico

Chromatin organization modulates the origin of heritable structural variations in human genome

artículo científico publicado en 2019

Colorectal Cancer with Residual Polyp of Origin: A Model of Malignant Transformation

artículo científico publicado en 2016

Combining copy number, methylation markers, and mutations as a panel for endometrial cancer detection via intravaginal tampon collection

scientific article published on 28 November 2019

Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans.

artículo científico publicado en 2017

Comprehensive, integrated, and phased whole-genome analysis of the primary ENCODE cell line K562

artículo científico publicado en 2019

Detection and Quantification of Mosaic Genomic DNA Variation in Primary Somatic Tissues Using ddPCR: Analysis of Mosaic Transposable-Element Insertions, Copy-Number Variants, and Single-Nucleotide Variants

artículo científico publicado en 2018

Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis.

artículo científico publicado en 2017

Elevated variant density around SV breakpoints in germline lineage lends support to error-prone replication hypothesis.

artículo científico publicado en 2016

Erratum: Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms

artículo científico publicado en 2015

FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders

artículo científico publicado en 2015

Friend, an integrated analytical front-end application for bioinformatics

artículo científico publicado en 2005

Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms

artículo científico publicado en 2011

Haplotype-resolved and integrated genome analysis of the cancer cell line HepG2

artículo científico publicado en 2019

Human induced pluripotent stem cells for modelling neurodevelopmental disorders.

artículo científico publicado en 2017

Inferring modes of evolution from colorectal cancer with residual polyp of origin.

artículo científico publicado en 2017

Integration of protein motions with molecular networks reveals different mechanisms for permanent and transient interactions

artículo científico publicado en 2011

Integrative annotation of variants from 1092 humans: application to cancer genomics

artículo científico publicado en 2013

Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

artículo científico publicado en 2017

Landscape and variation of novel retroduplications in 26 human populations.

artículo científico publicado en 2017

MSB: a mean-shift-based approach for the analysis of structural variation in the genome

artículo científico publicado en 2008

Mapping copy number variation by population-scale genome sequencing

artículo científico publicado en 2011

MetaSV: an accurate and integrative structural-variant caller for next generation sequencing

artículo científico publicado en 2015

Molecular characterization of colorectal adenomas with and without malignancy reveals distinguishing genome, transcriptome and methylome alterations

artículo científico publicado en 2018

Molecular signatures of multiple myeloma progression through single cell RNA-Seq

artículo científico publicado en 2019

Neurological safety of oxaliplatin in patients with uncommon variants in Charcot-Marie-tooth disease genes

artículo científico publicado en 2020

One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin.

artículo científico publicado en 2017

PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data

artículo científico publicado en 2009

Regulatory element copy number differences shape primate expression profiles.

artículo científico publicado en 2012

RigidFinder: a fast and sensitive method to detect rigid blocks in large macromolecular complexes

artículo científico publicado en 2010

SCELLECTOR: ranking amplification bias in single cells using shallow sequencing

artículo científico publicado en 2020

Single-cell analysis of targeted transcriptome predicts drug sensitivity of single cells within human myeloma tumors.

artículo científico publicado en 2015

Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells

artículo científico publicado en 2012

Structural alignment of proteins by a novel TOPOFIT method, as a superimposition of common volumes at a topomax point

artículo científico publicado en 2004

Structural exon database, SEDB, mapping exon boundaries on multiple protein structures

artículo científico publicado en 2004

Structure SNP (StSNP): a web server for mapping and modeling nsSNPs on protein structures with linkage to metabolic pathways

artículo científico publicado en 2007

TOPOFIT-DB, a database of protein structural alignments based on the TOPOFIT method

artículo científico publicado en 2006

Testing of candidate single nucleotide variants associated with paclitaxel neuropathy in the trial NCCTG N08C1 (Alliance)

artículo científico publicado en 2016

The PsychENCODE project

artículo científico publicado en 2015

Transcriptome and epigenome landscape of human cortical development modeled in organoids

artículo científico publicado en 2018

UmuD and RecA directly modulate the mutagenic potential of the Y family DNA polymerase DinB.

artículo científico publicado en 2007

Understanding genome structural variations

artículo científico publicado en 2015

VarSim: a high-fidelity simulation and validation framework for high-throughput genome sequencing with cancer applications.

artículo científico publicado en 2014

Lista de obras de Alexej Abyzov

A comprehensive analysis of non-sequential alignments between all protein structures

A uniform survey of allele-specific binding and expression over 1000-Genomes-Project individuals

AGE: defining breakpoints of genomic structural variants at single-nucleotide resolution, through optimal alignments with gap excision

Active site prediction for comparative model structures with thematics

AlleleSeq: analysis of allele-specific expression and binding in a network framework

An AP endonuclease 1-DNA polymerase beta complex: theoretical prediction of interacting surfaces

An integrated map of structural variation in 2,504 human genomes

Analysis of combinatorial regulation: scaling of partnerships between regulators with the number of governed targets

Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms ⬇️

Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division

Annual Research Review: The promise of stem cell research for neuropsychiatric disorders

Architecture of the human regulatory network derived from ENCODE data

CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

Child development and structural variation in the human genome

Chromatin organization modulates the origin of heritable structural variations in human genome

Colorectal Cancer with Residual Polyp of Origin: A Model of Malignant Transformation

Combining copy number, methylation markers, and mutations as a panel for endometrial cancer detection via intravaginal tampon collection

Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans.

Comprehensive, integrated, and phased whole-genome analysis of the primary ENCODE cell line K562

Detection and Quantification of Mosaic Genomic DNA Variation in Primary Somatic Tissues Using ddPCR: Analysis of Mosaic Transposable-Element Insertions, Copy-Number Variants, and Single-Nucleotide Variants

Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis.

Elevated variant density around SV breakpoints in germline lineage lends support to error-prone replication hypothesis.

Erratum: Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms

FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders

Friend, an integrated analytical front-end application for bioinformatics

Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms

Haplotype-resolved and integrated genome analysis of the cancer cell line HepG2

Human induced pluripotent stem cells for modelling neurodevelopmental disorders.

Inferring modes of evolution from colorectal cancer with residual polyp of origin.

Integration of protein motions with molecular networks reveals different mechanisms for permanent and transient interactions

Integrative annotation of variants from 1092 humans: application to cancer genomics

Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

Landscape and variation of novel retroduplications in 26 human populations.

MSB: a mean-shift-based approach for the analysis of structural variation in the genome

Mapping copy number variation by population-scale genome sequencing

MetaSV: an accurate and integrative structural-variant caller for next generation sequencing

Molecular characterization of colorectal adenomas with and without malignancy reveals distinguishing genome, transcriptome and methylome alterations

Molecular signatures of multiple myeloma progression through single cell RNA-Seq

Neurological safety of oxaliplatin in patients with uncommon variants in Charcot-Marie-tooth disease genes

One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin.

PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data

Regulatory element copy number differences shape primate expression profiles.

RigidFinder: a fast and sensitive method to detect rigid blocks in large macromolecular complexes

SCELLECTOR: ranking amplification bias in single cells using shallow sequencing

Single-cell analysis of targeted transcriptome predicts drug sensitivity of single cells within human myeloma tumors.

Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells

Structural alignment of proteins by a novel TOPOFIT method, as a superimposition of common volumes at a topomax point

Structural exon database, SEDB, mapping exon boundaries on multiple protein structures

Structure SNP (StSNP): a web server for mapping and modeling nsSNPs on protein structures with linkage to metabolic pathways

TOPOFIT-DB, a database of protein structural alignments based on the TOPOFIT method

Testing of candidate single nucleotide variants associated with paclitaxel neuropathy in the trial NCCTG N08C1 (Alliance)

The PsychENCODE project

Transcriptome and epigenome landscape of human cortical development modeled in organoids

UmuD and RecA directly modulate the mutagenic potential of the Y family DNA polymerase DinB.

Understanding genome structural variations

VarSim: a high-fidelity simulation and validation framework for high-throughput genome sequencing with cancer applications.