M. G. Reese

发表

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding.

Francisco M. De La Vega, Robert E. Beaudoin, E. Eichler, 2009, Genome research.

Annotating eukaryote genomes.

M. Ashburner, S. Lewis, M. G. Reese, 2000, Current opinion in structural biology.

Genie--gene finding in Drosophila melanogaster.

D. Haussler, M. G. Reese, D. Kulp, 2000, Genome research.

EGASP: collaboration through competition to find human genes

R. Guigó, M. G. Reese, 2005, Nature Methods.

EGASP: the human ENCODE Genome Annotation Assessment Project

E. Birney, M. Ashburner, S. Lewis, 2006, Genome Biology.

The genome sequence of Drosophila melanogaster.

Stephen M. Mount, M. Adams, E. Myers, 2000, Science.

Genome annotation assessment in Drosophila melanogaster.

S. Lewis, J. Abril, M. G. Reese, 2000, Genome research.

A probabilistic disease-gene finder for personal genomes.

M. G. Reese, M. Yandell, L. Jorde, 2011, Genome research.

A Generalized Hidden Markov Model for the Recognition of Human Genes in DNA

David Haussler, Frank H. Eeckman, Martin G. Reese, 1996, ISMB.

NOVEL NEURAL NETWORK PREDICTION SYSTEMS FOR HUMAN PROMOTERS AND SPLICE SITES

M. G. Reese, F. Eeckman, 1995 .

Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.

Brett J. Kennedy, M. G. Reese, K. Eilbeck, 2014, American journal of human genetics.

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

John Reynders, Martin G. Reese, Patrick Mulrooney, 2019, Science Translational Medicine.

VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Conservation-Controlled Amino Acid Substitution Matrix

Mark Yandell, Martin G Reese, Steven Flygare, 2013, Genetic epidemiology.

A standard variation file format for human genome sequences

Karen Eilbeck, Paul Flicek, Fiona Cunningham, 2010, Genome Biology.

An exploration of the sequence of a 2.9-Mb region of the genome of Drosophila melanogaster: the Adh region.

R George, S Misra, K Whitelaw, 1999, Genetics.

Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variation.

Rong Chen, Francisco M. De La Vega, Larsson Omberg, 2012, American journal of human genetics.

Clinical analysis of genome next-generation sequencing data using the Omicia platform

Martin G Reese, Archie Russell, Karl V Voelkerding, 2013, Expert review of molecular diagnostics.

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data

Gustavo Glusman, Paul Scheet, Mark Yandell, 2014, Nature Biotechnology.

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person

Gerald A. Higgins, M. G. Reese, K. Eilbeck, 2013, PeerJ.

DETECTION OF EUKARYOTIC PROMOTER REGIONS USING STOCHASTIC LANGUAGE MODELS

M. G. Reese, U. Ohler, 1998 .

Drosophila melanogaster Genome Annotation Assessment in Material Supplemental

S. Lewis, J. Abril, M. G. Reese, 2000 .

Data : The Benchmark Sequence : The Adh Region in D . melanogaster

S. Lewis, J. Abril, M. G. Reese, 2022 .

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

EGASP: the human ENCODE Genome Annotation Assessment

E. Birney, M. Ashburner, S. Lewis, 2015 .

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

Francisco M. De La Vega, Laurie D. Smith, J. Weir, 2022, Nature Communications.

Improved splice site detection in Genie

David Haussler, Frank H. Eeckman, Martin G. Reese, 1997, RECOMB '97.

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

Laurie D. Smith, Scott D. Kahn, G. Del Angel, 2022, American journal of human genetics.

Genome-Wide Analysis of Human Disease Alleles Reveals That Their Locations Are Correlated in Paralogous Proteins

Chris Mungall, Fidel Salas, Mark Yandell, 2008, PLoS Comput. Biol..

Application of a Time-delay Neural Network to Promoter Annotation in the Drosophila Melanogaster Genome

Martin G. Reese, M. G. Reese, 2001, Comput. Chem..

Improved splice site detection in Genie

David Haussler, Frank H. Eeckman, Martin G. Reese, 1997, RECOMB '97.

Assuring the quality of next-generation sequencing in clinical laboratory practice

Shashikant Kulkarni, Bin Chen, Philip L. F. Johnson, 2012, Nature Biotechnology.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Integrating database homology in a probabilistic gene structure model.

D Haussler, D Kulp, D. Haussler, 1997, Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing.

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

Francisco M. De La Vega, Kiely N. James, S. Kingsmore, 2021, Genome Medicine.

Interpolated markov chains for eukaryotic promoter recognition

Elmar Nöth, Heinrich Niemann, Stefan Harbeck, 1999, Bioinform..

Using VAAST to Identify Disease‐Associated Variants in Next‐Generation Sequencing Data

Mark Yandell, Hao Hu, Martin G Reese, 2014, Current protocols in human genetics.

Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing

T. Sokolsky, M. G. Reese, S. Wyman, 2014, Genetics in Medicine.

Global analysis of disease-related DNA sequence variation in 10 healthy individuals: Implications for whole genome-based clinical diagnostics

Mark Yandell, Martin G Reese, Barry Moore, 2011, Genetics in Medicine.

EGASP: Introduction

R. Guigó, M. G. Reese, 2006, Genome Biology.

Improved use of SNP information to detect the role of genes

M. G. Reese, F. Clerget-Darpoux, L. Essioux, 2003, Genetic epidemiology.

A standard variation file format for human genome sequences

Colin R. Batchelor, G. Marth, L. Stein, 2010, Genome Biology.

Application of a Time-delay Neural Network to Promoter Annotation in the Drosophila Melanogaster Genome

M. G. Reese, 2001, Comput. Chem..

Response to Grosse et al.

Laurie D. Smith, Scott D. Kahn, G. Del Angel, 2023, American Journal of Human Genetics.

The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool

Karen Eilbeck, Hao Hu, Mark Yandell, 2018, BMC Bioinformatics.