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1 . Academic Journal
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases
저자
by
Mallory J. Owen
;
Sebastien Lefebvre
;
Christian Hansen
;
Chris M. Kunard
;
David P. Dimmock
, et al.
소스
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
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7 . Academic Journal
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases
저자
by
Francisco M. De La Vega
;
Shimul Chowdhury
;
Barry Moore
;
Erwin Frise
;
Jeanette McCarthy
, et al.
소스
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Open Access (BioMed Central)
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7 . Academic Journal
The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool
저자
by
Steven Flygare
;
Edgar Javier Hernandez
;
Lon Phan
;
Barry Moore
;
Man Li
, et al.
소스
BMC Bioinformatics, Vol 19, Iss 1, Pp 1-13 (2018)
Open Access (BioMed Central)
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7 . Academic Journal
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person
저자
by
Jason A. O’Rawe
;
Han Fang
;
Shawn Rynearson
;
Reid Robison
;
Edward S. Kiruluta
, et al.
소스
PeerJ, Vol 1, p e177 (2013)
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7 .
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
저자
by
Stephen F. Kingsmore
;
Laurie D. Smith
;
Chris M. Kunard
;
Matthew Bainbridge
;
Sergey Batalov
, et al.
소스
American journal of human genetics, vol 109, iss 9
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7 .
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
저자
by
Gill Wilson
;
Anna de Burca
;
Marta Bleda
;
Lucy R. Wedderburn
;
Matthew Welland
, et al.
소스
Mumford, A D 2021, ' 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care-Preliminary Report ', New England Journal of Medicine, vol. 385, no. 20, pp. 1868-1880 . https://doi.org/10.1056/NEJMoa2035790
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7 .
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases
저자
by
Narayanan Veeraraghavan
;
Pankaj B. Agrawal
;
Paul Billings
;
Keri Ramsey
;
Casie A. Genetti
, et al.
소스
Genome Medicine
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Open Access (BioMed Central)
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Scopus
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7 .
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
저자
by
Terence C. Wong
;
Marie L. Janes
;
John Reynders
;
Martin G. Reese
;
Brett Williams
, et al.
소스
Science translational medicine
. 11(489)
Scopus
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7 .
The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool
저자
by
Barry Moore
;
Chad D. Huff
;
Man Li
;
Mark Yandell
;
Karen Eilbeck
, et al.
소스
BMC Bioinformatics, Vol 19, Iss 1, Pp 1-13 (2018)
BMC Bioinformatics
Open Access (BioMed Central)
Open Access (OpenAIRE)
Scopus
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7 .
Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families
저자
by
Karen Eilbeck
;
Brett Kennedy
;
Martin G. Reese
;
Rebecca L. Margraf
;
Karl V. Voelkerding
, et al.
소스
The American Journal of Human Genetics
. 94:599-610
Open Access (OpenAIRE)
Full Text (ScienceDirect O/A)
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