List of works by Deanna M. Church

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

scientific article published on 14 August 2019

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

scientific article

A radiation hybrid map of mouse genes

article

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

scientific article published on 26 January 2017

Accessing the human genome.

scientific article published in November 2002

Achieving high-sensitivity for clinical applications using augmented exome sequencing

scientific article

Alternate-locus aware variant calling in whole genome sequencing

scientific article published on 13 December 2016

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

scientific article

Analysis of segmental duplications and genome assembly in the mouse

scientific article published on May 2004

Assembly: a resource for assembled genomes at NCBI.

scientific article published on 17 November 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

scientific article published on 14 October 2019

Building and Improving Reference Genome Assemblies

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

scientific article published on 21 August 2006

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

scientific article

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

scientific article

Completing the map of human genetic variation

scientific article published on May 2007

Connecting sequence and biology in the laboratory mouse

scientific article

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

scientific article (publication date: 14 May 2010)

Corrigendum: Direct determination of diploid genome sequences.

scientific article published in April 2018

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

scientific article

Database resources of the National Center for Biotechnology Information

scientific article (published 2012-01-01)

Database resources of the National Center for Biotechnology Information

scientific article

Database resources of the National Center for Biotechnology Information

scientific article (published 2010-01-01)

Database resources of the National Center for Biotechnology Information

scientific article (publication date: 2007)

Database resources of the National Center for Biotechnology Information

scientific article (published 2005-01-01)

Database resources of the National Center for Biotechnology Information

scientific article (published 2006-01-01)

Database resources of the National Center for Biotechnology Information

scientific article (publication date: 2009)

Database resources of the National Center for Biotechnology Information

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

scientific article

DbVar and DGVa: public archives for genomic structural variation

scientific article (publication date: 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

scientific article

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

scientific article published in February 2018

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

scientific article

Extending reference assembly models

scientific article

Genomes for all

scientific article published on 01 September 2018

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

scientific article

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

scientific article published on 21 January 2020

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

scientific article published on 23 July 2010

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

scientific article published in June 2007

Initial sequencing and analysis of the human genome

scientific article published on 15 February 2001

Initial sequencing and comparative analysis of the mouse genome

scientific article

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

scientific article

Modernizing reference genome assemblies

scientific article

Mouse segmental duplication and copy number variation

scientific article published on 22 May 2008

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

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

scientific article published on 16 April 2019

Online resources for genomic structural variation

scientific article

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

scientific article

Public data archives for genomic structural variation

scientific article

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

scientific article published on 12 January 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

scientific article

Shotgun sequence assembly and recent segmental duplications within the human genome

scientific article published on 01 October 2004

Single haplotype assembly of the human genome from a hydatidiform mole

scientific article

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

scientific article

Thousands of human sequences provide deep insight into single genomes

scientific article published on 01 May 2020

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

scientific article

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