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1 . Academic Journal
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden
저자
by
Andrew G. Sharo
;
Yangyun Zou
;
Aashish N. Adhikari
;
Steven E. Brenner
.
소스
Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)
Open Access (BioMed Central)
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6 . Academic Journal
The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health
저자
by
Audrey C. Woerner
;
Renata C. Gallagher
;
Jerry Vockley
;
Aashish N. Adhikari
.
소스
Frontiers in Pediatrics, Vol 9 (2021)
Open Access (DOAJ)
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6 . Academic Journal
Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing
저자
by
Aashish N. Adhikari
;
Robert J. Currier
;
Hao Tang
;
Coleman T. Turgeon
;
Robert L. Nussbaum
, et al.
소스
International Journal of Neonatal Screening, Vol 6, Iss 2, p 41 (2020)
Open Access (DOAJ)
Web of Science
Scopus
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7 .
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden
저자
by
Andrew G. Sharo
;
Yangyun Zou
;
Aashish N. Adhikari
;
Steven E. Brenner
.
소스
요약보기
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6 .
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases
저자
by
Zhiqiang Hu
;
Jesse M. Hunter
;
Olivier Lichtarge
;
Sean D. Mooney
;
Aashish N. Adhikari
, et al.
소스
Hum Mutat
Open Access (OpenAIRE)
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7 .
Opportunities and challenges for the computational interpretation of rare variation in clinically important genes
저자
by
Barbara A. Koenig
;
Steven E. Brenner
;
Russ B. Altman
;
Gregory McInnes
;
Jodi Halpern
, et al.
소스
American journal of human genetics, vol 108, iss 4
American Journal of Human Genetics
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7 .
Opportunities and Challenges for Interpreting Rare Variation in Clinically Important Genes
저자
by
Renata C. Gallagher
;
Megan L. Koleske
;
Barbara A. Koenig
;
Jodi Halpern
;
Brown Jeh
, et al.
소스
Open Access (OpenAIRE)
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7 .
Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing
저자
by
Renata C. Gallagher
;
Dimitar Gavrilov
;
Uma Sunderam
;
Pui-Yan Kwok
;
Jennifer M. Puck
, et al.
소스
International journal of neonatal screening
International journal of neonatal screening, vol 6, iss 2
International Journal of Neonatal Screening, Vol 6, Iss 41, p 41 (2020)
International Journal of Neonatal Screening
Volume 6
Issue 2
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Scopus
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7 .
Perturbation robustness analyses reveal important parameters in variant interpretation pipelines
저자
by
Pui-Yan Kwok
;
Steven E. Brenner
;
Yaqiong Wang
;
Aashish N. Adhikari
;
Mark N. Kvale
, et al.
소스
Open Access (OpenAIRE)
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7 .
DNA from dried blood spots yields high quality sequences for exome analysis
저자
by
Uma Sunderam
;
Pui-Yan Kwok
;
Rajgopal Srinivasan
;
Kunal Kundu
;
Robert J. Currier
, et al.
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