Lista de obras - Deanna M. Church - Dominio Público Uruguay

A general approach for detecting expressed mutations in AML cells using single cell RNA-sequencing

artículo científico publicado en 2019

A genome-wide comparison of recent chimpanzee and human segmental duplications

artículo científico publicado en 2005

A radiation hybrid map of mouse genes

article

A variant by any name: quantifying annotation discordance across tools and clinical databases

artículo científico publicado en 2017

Accessing the human genome.

artículo científico publicado en 2002

Achieving high-sensitivity for clinical applications using augmented exome sequencing

artículo científico publicado en 2015

Alternate-locus aware variant calling in whole genome sequencing

artículo científico publicado en 2016

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities ⬇️

artículo científico publicado el 1 de septiembre de 2011

Analysis of segmental duplications and genome assembly in the mouse

artículo científico publicado en 2004

Assembly: a resource for assembled genomes at NCBI.

artículo científico publicado en 2015

Back to Bermuda: how is science best served?

scientific article published on 24 April 2009

Birth, expansion, and death of VCY-containing palindromes on the human Y chromosome

artículo científico publicado en 2019

Building and Improving Reference Genome Assemblies

Candidate single nucleotide polymorphism selection using publicly available tools: a guide for epidemiologists.

artículo científico publicado en 2006

ClinVar: public archive of relationships among sequence variation and human phenotype

artículo científico publicado en 2013

Clone DB: an integrated NCBI resource for clone-associated data

artículo científico publicado en 2012

Completing the map of human genetic variation

artículo científico publicado en 2007

Connecting sequence and biology in the laboratory mouse

artículo científico publicado en 2003

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

artículo científico publicado en 2010

Corrigendum: Direct determination of diploid genome sequences.

artículo científico publicado en 2018

Cross-species sequence comparisons: a review of methods and available resources

artículo científico publicado en 2003

Database resources of the National Center for Biotechnology Information

artículo científico publicado en 2012

Database resources of the National Center for Biotechnology Information

artículo científico publicado en 2011

Database resources of the National Center for Biotechnology Information

artículo científico publicado en 2010

Database resources of the National Center for Biotechnology Information

artículo científico publicado en 2007

Database resources of the National Center for Biotechnology Information

artículo científico publicado en 2005

Database resources of the National Center for Biotechnology Information

artículo científico publicado en 2006

Database resources of the National Center for Biotechnology Information

artículo científico publicado en 2009

Database resources of the National Center for Biotechnology Information

Database resources of the National Center for Biotechnology Information: 2002 update

artículo científico publicado en 2002

DbVar and DGVa: public archives for genomic structural variation

artículo científico publicado en 2013

De novo assembly of the olive fruit fly (Bactrocera oleae) genome with linked-reads and long-read technologies minimizes gaps and provides exceptional Y chromosome assembly

scientific article published on 30 March 2020

Direct determination of diploid genome sequences

artículo científico publicado en 2017

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.

artículo científico publicado en 2018

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

artículo científico publicado en 2017

Extending reference assembly models

artículo científico publicado en 2015

Genomes for all

artículo científico publicado en 2018

Good laboratory practice for clinical next-generation sequencing informatics pipelines.

artículo científico publicado en 2015

Haplotyping the Vitis collinear core genome with rhAmpSeq improves marker transferability in a diverse genus

artículo científico publicado en 2020

High-throughput sequencing of the DBA/2J mouse genome

artículo científico publicado en 2010

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

artículo científico publicado en 2007

Initial sequencing and analysis of the human genome

artículo científico publicado en 2001

Initial sequencing and comparative analysis of the mouse genome

artículo científico publicado en 2002

Lineage-specific biology revealed by a finished genome assembly of the mouse

artículo científico publicado en 2009

Modernizing reference genome assemblies

artículo científico publicado en 2011

Mouse segmental duplication and copy number variation

artículo científico publicado en 2008

Multi-platform discovery of haplotype-resolved structural variation in human genomes

artículo científico publicado en 2019

Online Resources for Genomic Structural Variation ⬇️

artículo científico publicado el 1 de enero de 2012

Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings

artículo científico publicado en 2017

Public data archives for genomic structural variation

artículo científico publicado en 2010

Reference Quality Assembly of the 3.5 Gb genome ofCapsicum annuumfrom a Single Linked-Read Library

Reference quality assembly of the 3.5-Gb genome of Capsicum annuum from a single linked-read library

artículo científico publicado en 2018

Resolving the full spectrum of human genome variation using Linked-Reads

Sequence variations in the public human genome data reflect a bottlenecked population history

artículo científico publicado en 2002

Shotgun sequence assembly and recent segmental duplications within the human genome

artículo científico publicado en 2004

Single haplotype assembly of the human genome from a hydatidiform mole

artículo científico publicado en 2014

Single-Cell Transcriptomics Reveals Early Emergence of Liver Parenchymal and Non-parenchymal Cell Lineages

scientific article published on 01 October 2020

The emergent landscape of the mouse gut endoderm at single-cell resolution

scientific article published on 08 April 2019

The genome Assembly Archive: a new public resource

artículo científico publicado en 2004

Thousands of human sequences provide deep insight into single genomes

artículo científico publicado en 2020

WebaCGH: an interactive online tool for the analysis and display of array comparative genomic hybridisation data

artículo científico publicado en 2006

Lista de obras de Deanna M. Church

A general approach for detecting expressed mutations in AML cells using single cell RNA-sequencing

A genome-wide comparison of recent chimpanzee and human segmental duplications

A radiation hybrid map of mouse genes

A variant by any name: quantifying annotation discordance across tools and clinical databases

Accessing the human genome.

Achieving high-sensitivity for clinical applications using augmented exome sequencing

Alternate-locus aware variant calling in whole genome sequencing

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities ⬇️

Analysis of segmental duplications and genome assembly in the mouse

Assembly: a resource for assembled genomes at NCBI.

Back to Bermuda: how is science best served?

Birth, expansion, and death of VCY-containing palindromes on the human Y chromosome

Building and Improving Reference Genome Assemblies

Candidate single nucleotide polymorphism selection using publicly available tools: a guide for epidemiologists.

ClinVar: public archive of relationships among sequence variation and human phenotype

Clone DB: an integrated NCBI resource for clone-associated data

Completing the map of human genetic variation

Connecting sequence and biology in the laboratory mouse

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

Corrigendum: Direct determination of diploid genome sequences.

Cross-species sequence comparisons: a review of methods and available resources

Database resources of the National Center for Biotechnology Information

Database resources of the National Center for Biotechnology Information

Database resources of the National Center for Biotechnology Information

Database resources of the National Center for Biotechnology Information

Database resources of the National Center for Biotechnology Information

Database resources of the National Center for Biotechnology Information

Database resources of the National Center for Biotechnology Information

Database resources of the National Center for Biotechnology Information

Database resources of the National Center for Biotechnology Information: 2002 update

DbVar and DGVa: public archives for genomic structural variation

De novo assembly of the olive fruit fly (Bactrocera oleae) genome with linked-reads and long-read technologies minimizes gaps and provides exceptional Y chromosome assembly

Direct determination of diploid genome sequences

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

Extending reference assembly models

Genomes for all

Good laboratory practice for clinical next-generation sequencing informatics pipelines.

Haplotyping the Vitis collinear core genome with rhAmpSeq improves marker transferability in a diverse genus

High-throughput sequencing of the DBA/2J mouse genome

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Initial sequencing and analysis of the human genome

Initial sequencing and comparative analysis of the mouse genome

Lineage-specific biology revealed by a finished genome assembly of the mouse

Modernizing reference genome assemblies

Mouse segmental duplication and copy number variation

Multi-platform discovery of haplotype-resolved structural variation in human genomes

Multi-platform discovery of haplotype-resolved structural variation in human genomes

Online Resources for Genomic Structural Variation ⬇️

Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings

Public data archives for genomic structural variation

Reference Quality Assembly of the 3.5 Gb genome ofCapsicum annuumfrom a Single Linked-Read Library

Reference quality assembly of the 3.5-Gb genome of Capsicum annuum from a single linked-read library

Resolving the full spectrum of human genome variation using Linked-Reads

Sequence variations in the public human genome data reflect a bottlenecked population history

Shotgun sequence assembly and recent segmental duplications within the human genome

Single haplotype assembly of the human genome from a hydatidiform mole

Single-Cell Transcriptomics Reveals Early Emergence of Liver Parenchymal and Non-parenchymal Cell Lineages

The emergent landscape of the mouse gut endoderm at single-cell resolution

The genome Assembly Archive: a new public resource

Thousands of human sequences provide deep insight into single genomes

WebaCGH: an interactive online tool for the analysis and display of array comparative genomic hybridisation data