Alan F Scott

Associate Professor

1972 …2019
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Genes Medicine & Life Sciences
Cleft Palate Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences
Cleft Lip Medicine & Life Sciences
Genome Medicine & Life Sciences
Long Interspersed Nucleotide Elements Medicine & Life Sciences
Globins Medicine & Life Sciences
Population Medicine & Life Sciences

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Research Output 1972 2019

Open Access
asthma
loci
Asthma
Genes
Chromosomes

Detection of de novo copy number deletions from targeted sequencing of trios

Fu, J. M., Leslie, E. J., Scott, A. F., Murray, J. C., Marazita, M. L., Beaty, T. L., Scharpf, R. B. & Ruczinski, I., Feb 15 2019, In : Bioinformatics. 35, 4, p. 571-578 8 p.

Research output: Contribution to journalArticle

Open Access
Formal methods
Deletion
Sequencing
Scalability
Minimum Distance

OMIM.org: leveraging knowledge across phenotype-gene relationships

Amberger, J. S., Bocchini, C. A., Scott, A. F. & Hamosh, A., Jan 8 2019, In : Nucleic Acids Research. 47, D1, p. D1038-D1043

Research output: Contribution to journalArticle

Genetic Databases
Phenotype
Genes
Genetic Heterogeneity
Medical Genetics

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Renard, M., Francis, C., Ghosh, R., Scott, A. F., Witmer, P. D., Adès, L. C., Andelfinger, G. U., Arnaud, P., Boileau, C., Callewaert, B. L., Guo, D., Hanna, N., Lindsay, M. E., Morisaki, H., Morisaki, T., Pachter, N., Robert, L., Van Laer, L., Dietz, H. C., Loeys, B. L. & 2 others, Milewicz, D. M. & De Backer, J., Aug 7 2018, In : Journal of the American College of Cardiology. 72, 6, p. 605-615 11 p.

Research output: Contribution to journalArticle

Thoracic Aortic Aneurysm
Dissection
Genes
Aortic Diseases
Thoracic Diseases

Inferring disease risk genes from sequencing data in multiplex pedigrees through sharing of rare variants

Bureau, A., Begum, F., Taub, M. A., Hetmanski, J. B., Parker, M. M., Albacha-Hejazi, H., Scott, A. F., Murray, J. C., Marazita, M. L., Bailey-Wilson, J. E., Beaty, T. L. & Ruczinski, I., Jan 1 2018, (Accepted/In press) In : Genetic Epidemiology.

Research output: Contribution to journalArticle

Pedigree
Genes
Exome
Haplotypes
Software