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Author Details

Martin G Reese
Fabric Genomics Inc.
1996
38
26
PMIDPaper TitleJournal TitlePublished Year
37267897Response to Grosse et al.Am J Hum Genet2023
36007526A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.Am J Hum Genet2022
35882841An automated 13.5â¿¿hour system for scalable diagnosis and acute management guidance for genetic diseases.Nat Commun2022
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34645491Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.Genome Med2021
31019026Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.Sci Transl Med2019
29463208The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool.BMC Bioinformatics2018
28187516Collaborating to Compete: Blood Profiling Atlas in Cancer (BloodPAC) Consortium.Clin Pharmacol Ther2017
25255367Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.Genet Med2015
24702956Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.Am J Hum Genet2014
24837662A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.Nat Biotechnol2014
24763993Using VAAST to Identify Disease-Associated Variants in Next-Generation Sequencing Data.Curr Protoc Hum Genet2014
24667040An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.Genome Biol2014
23836555VAAST 2.0: improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix.Genet Epidemiol2013
24109560Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.PeerJ2013
23895124Clinical analysis of genome next-generation sequencing data using the Omicia platform.Expert Rev Mol Diagn2013
23138292Assuring the quality of next-generation sequencing in clinical laboratory practice.Nat Biotechnol2012
23040495Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variation.Am J Hum Genet2012
21325948Global analysis of disease-related DNA sequence variation in 10 healthy individuals: implications for whole genome-based clinical diagnostics.Genet Med2011
21700766A probabilistic disease-gene finder for personal genomes.Genome Res2011
20796305A standard variation file format for human genome sequences.Genome Biol2010
19546169Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding.Genome Res2009
18989397Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins.PLoS Comput Biol2008
16925831EGASP: Introduction.Genome Biol2006
16925836EGASP: the human ENCODE Genome Annotation Assessment Project.Genome Biol2006
16094379EGASP: collaboration through competition to find human genes.Nat Methods2005
12916024Improved use of SNP information to detect the role of genes.Genet Epidemiol2003
11765852Application of a time-delay neural network to promoter annotation in the Drosophila melanogaster genome.Comput Chem2001
10731132The genome sequence of Drosophila melanogaster.Science2000
10851187Annotating eukaryote genomes.Curr Opin Struct Biol2000
10779493Genie--gene finding in Drosophila melanogaster.Genome Res2000
10779488Genome annotation assessment in Drosophila melanogaster.Genome Res2000
10471707An exploration of the sequence of a 2.9-Mb region of the genome of Drosophila melanogaster: the Adh region.Genetics1999
10366656Interpolated markov chains for eukaryotic promoter recognition.Bioinformatics1999
9390295Integrating database homology in a probabilistic gene structure model.Pac Symp Biocomput1997
9278062Improved splice site detection in Genie.J Comput Biol1997
8888138Distance distributions in proteins: a six-parameter representation.Protein Eng1996
8877513A generalized hidden Markov model for the recognition of human genes in DNA.Proc Int Conf Intell Syst Mol Biol1996
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Collaborators

Mark Yandell
University of Utah
Co-authored papers 12
Barry Moore
Utah Center for Genetic Discovery, University of Utah
Co-authored papers 9
Chad D Huff
University of Texas M.D. Anderson Cancer Center
Co-authored papers 6
Hao Hu
Aerospace Center Hospital
Co-authored papers 6
Francisco M De La Vega
Stanford University School of Medicine
Co-authored papers 6
David Dimmock
Rady Children's Institute for Genomic Medicine
Co-authored papers 5
Lynn B Jorde
University of Utah School of Medicine
Co-authored papers 5
Suzanna E Lewis
Lawrence Berkeley National Laboratory
Co-authored papers 5
David Kulp
Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard
Co-authored papers 5
Ashok Veeraraghavan
Rice University
Co-authored papers 5
Karen Eilbeck
University of Utah
Co-authored papers 5
Stephen F Kingsmore
Rady Children's Institute for Genomic Medicine
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Michael Ashburner
University of Cambridge
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Serge Batalov
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Erwin Frise
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David Haussler
Genomics Institute, University of California Santa Cruz
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Roderic Guig??
Barcelona Institute of Science and Technology
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Annette Feigenbaum
Rady Children's Hospital and The University of California
Co-authored papers 3
Nomi L Harris
Lawrence Berkely National Laboratory, Massachusetts Institute of Technology, Princeton University
Co-authored papers 3
Catherine A Brownstein
Harvard Medical School.
Co-authored papers 2
Susan E Celniker
Lawrence Berkeley National Laboratory
Co-authored papers 2
Christina Doyle
Co-authored papers 2
Allan C Spradling
Carnegie Institution for Science/Howard Hughes Medical Institute
Co-authored papers 2
Kenneth H Wan
Lawrence Berkeley National Laboratory
Co-authored papers 2
Gustavo Glusman
Institute for Systems Biology
Co-authored papers 2
Reed A George
Howard Hughes Medical Institute
Co-authored papers 2
Birgit Funke
Partners Healthcare Center for Personalized Genetic Medicine
Co-authored papers 2
Mike Palazzolo
Washington University School of Medicine
Co-authored papers 2
Fidel Salas
University of Pennsylvania School of Medicine, Clinical Research Building
Co-authored papers 2
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