Lista de obras -

A genomic view of short tandem repeats

artículo científico publicado en 2017

A novel single-cell screening platform reveals proteome plasticity during yeast stress responses

artículo científico publicado en 2013

A novel single-cell screening platform reveals proteome plasticity during yeast stress responses.

artículo científico publicado en 2013

A reference haplotype panel for genome-wide imputation of short tandem repeats

artículo científico publicado en 2018

Abundant contribution of short tandem repeats to gene expression variation in humans

artículo científico publicado en 2015

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

artículo científico publicado en 2019

Back to the family: a renewed approach to rare variant studies

artículo científico publicado en 2012

Chromatin profiling by directly sequencing small quantities of immunoprecipitated DNA.

artículo científico publicado en 2009

Combinatorial patterning of chromatin regulators uncovered by genome-wide location analysis in human cells

artículo científico publicado en 2011

Cooperation of cancer drivers with regulatory germline variants shapes clinical outcomes

artículo científico publicado en 2019

Digital transcriptome profiling from attomole-level RNA samples

artículo científico publicado en 2010

EWS-FLI1 utilizes divergent chromatin remodeling mechanisms to directly activate or repress enhancer elements in Ewing sarcoma

artículo científico publicado en 2014

Genome-wide profiling of heritable and de novo STR variations.

artículo científico publicado en 2017

Giving software its due through community-driven review and publication

Identifying personal genomes by surname inference

artículo científico publicado en 2013

Interactions of subunit CCT3 in the yeast chaperonin CCT/TRiC with Q/N-rich proteins revealed by high-throughput microscopy analysis.

artículo científico publicado en 2012

Interpreting short tandem repeat variations in humans using mutational constraint.

artículo científico publicado en 2017

Journal of Open Source Software (JOSS): design and first-year review

artículo científico publicado en 2018

LoQAtE--Localization and Quantitation ATlas of the yeast proteomE. A new tool for multiparametric dissection of single-protein behavior in response to biological perturbations in yeast

artículo científico

Mutation and selection processes regulating short tandem repeats give rise to genetic and phenotypic diversity across species

artículo científico publicado en 2022

OTX2 duplication is implicated in hemifacial microsomia

artículo científico publicado en 2014

PTMScout, a Web resource for analysis of high throughput post-translational proteomics studies

artículo científico publicado en 2010

Patterns of de novo tandem repeat mutations and their role in autism

artículo científico publicado en 2021

Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans

artículo científico publicado en 2016

Population-Scale Sequencing Data Enable Precise Estimates of Y-STR Mutation Rates

artículo científico publicado en 2016

Profiling short tandem repeats from short reads.

artículo científico publicado en 2013

Profiling the genome-wide landscape of tandem repeat expansions

artículo científico publicado en 2019

Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

artículo científico publicado en 2016

PyBamView: a browser-based application for viewing short read alignments.

artículo científico publicado en 2014

Quantitative analysis of population-scale family trees using millions of relatives

Quantitative analysis of population-scale family trees with millions of relatives

artículo científico publicado en 2018

Recommendations for open data science

artículo científico publicado en 2016

TRTools: a toolkit for genome-wide analysis of tandem repeats

scientific article published on 17 August 2020

Targeted genotyping of variable number tandem repeats with adVNTR

artículo científico publicado en 2018

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

artículo científico publicado en 2016

The histone deacetylase SIRT6 is a tumor suppressor that controls cancer metabolism

artículo científico publicado en 2012

The impact of short tandem repeat variation on gene expression

scientific article published on 01 November 2019

The landscape of human STR variation

artículo científico publicado en 2014

Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

artículo científico publicado en 2017

Using DNA sequencers as stethoscopes.

artículo científico publicado en 2011

lobSTR: A short tandem repeat profiler for personal genomes

artículo científico publicado en 2012

Lista de obras de

A genomic view of short tandem repeats

A novel single-cell screening platform reveals proteome plasticity during yeast stress responses

A novel single-cell screening platform reveals proteome plasticity during yeast stress responses.

A reference haplotype panel for genome-wide imputation of short tandem repeats

Abundant contribution of short tandem repeats to gene expression variation in humans

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

Back to the family: a renewed approach to rare variant studies

Chromatin profiling by directly sequencing small quantities of immunoprecipitated DNA.

Combinatorial patterning of chromatin regulators uncovered by genome-wide location analysis in human cells

Cooperation of cancer drivers with regulatory germline variants shapes clinical outcomes

Digital transcriptome profiling from attomole-level RNA samples

EWS-FLI1 utilizes divergent chromatin remodeling mechanisms to directly activate or repress enhancer elements in Ewing sarcoma

Genome-wide profiling of heritable and de novo STR variations.

Giving software its due through community-driven review and publication

Identifying personal genomes by surname inference

Interactions of subunit CCT3 in the yeast chaperonin CCT/TRiC with Q/N-rich proteins revealed by high-throughput microscopy analysis.

Interpreting short tandem repeat variations in humans using mutational constraint.

Journal of Open Source Software (JOSS): design and first-year review

LoQAtE--Localization and Quantitation ATlas of the yeast proteomE. A new tool for multiparametric dissection of single-protein behavior in response to biological perturbations in yeast

Mutation and selection processes regulating short tandem repeats give rise to genetic and phenotypic diversity across species

OTX2 duplication is implicated in hemifacial microsomia

PTMScout, a Web resource for analysis of high throughput post-translational proteomics studies

Patterns of de novo tandem repeat mutations and their role in autism

Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans

Population-Scale Sequencing Data Enable Precise Estimates of Y-STR Mutation Rates

Profiling short tandem repeats from short reads.

Profiling the genome-wide landscape of tandem repeat expansions

Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

PyBamView: a browser-based application for viewing short read alignments.

Quantitative analysis of population-scale family trees using millions of relatives

Quantitative analysis of population-scale family trees with millions of relatives

Recommendations for open data science

TRTools: a toolkit for genome-wide analysis of tandem repeats

Targeted genotyping of variable number tandem repeats with adVNTR

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

The histone deacetylase SIRT6 is a tumor suppressor that controls cancer metabolism

The impact of short tandem repeat variation on gene expression

The landscape of human STR variation

Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

Using DNA sequencers as stethoscopes.

lobSTR: A short tandem repeat profiler for personal genomes