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1 . Academic Journal
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing
저자
by
Abouhala, Siwaar
;
Albert, Jessica
;
Almalvez, Miguel
;
Alvarez, Raquel
;
Amin, Mutaz
, et al.
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In
Genetics in Medicine
October 2024 26(10)
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7 . Academic Journal
P821: Long-read sequencing resolves CYP21A2 alleles in congenital adrenal hyperplasia
저자
by
Emmanuèle Délot
;
Jean Monlong
;
Xiao Chen
;
Hayk Barseghyan
;
Surajit Bhattacharya
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101732- (2024)
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7 . Academic Journal
Beyond the exome: What’s next in diagnostic testing for Mendelian conditions
저자
by
Abouhala, Siwaar
;
Albert, Jessica
;
Almalvez, Miguel
;
Alvarez, Raquel
;
Amin, Mutaz
, et al.
소스
In
The American Journal of Human Genetics
3 August 2023 110(8):1229-1248
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7 . Academic Journal
Benchmarking long-read genome sequence alignment tools for human genomics applications
저자
by
Jonathan LoTempio
;
Emmanuele Delot
;
Eric Vilain
.
소스
PeerJ, Vol 11, p e16515 (2023)
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5 . Patent
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by
Kester, Jeffrey Joseph
.
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3 . Academic Journal
Paucity and Disparity of Publicly Available Sex-Disaggregated Data for the COVID-19 Epidemic Hamper Evidence-Based Decision-Making
저자
by
Kocher, Kristen
;
Delot-Vilain, Arthur
;
Spencer, D’Andre
;
LoTempio, Jonathan
;
Délot, Emmanuèle C.
.
소스
Archives of Sexual Behavior: The Official Publication of the International Academy of Sex Research
. 50(2):407-426
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7 . Academic Journal
Using a chat-based informed consent tool in large-scale genomic research.
저자
by
Savage, Sarah K
;
LoTempio, Jonathan
;
Smith, Erica D
;
Andrew, E Hallie
;
Mas, Gloria
, et al.
소스
Journal of the American Medical Informatics Association; Feb2024, Vol. 31 Issue 2, p472-478, 7p
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7 . Academic Journal
Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane
저자
by
Nantaporn Haskins
;
Shivaprasad Bhuvanendran
;
Claudio Anselmi
;
Anna Gams
;
Tomas Kanholm
, et al.
소스
Frontiers in Physiology, Vol 11 (2021)
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7 . Academic Journal
P821: Long-read sequencing resolves CYP21A2 alleles in congenital adrenal hyperplasia*
저자
by
Délot, Emmanuèle
;
Monlong, Jean
;
Chen, Xiao
;
Barseghyan, Hayk
;
Bhattacharya, Surajit
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
Benchmarking long-read genome sequence alignment tools for human genomics applications.
저자
by
LoTempio, Jonathan
;
Delot, Emmanuele
;
Vilain, Eric
.
소스
PeerJ; Dec2023, p1-26, 26p
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