Suzanne M. Leal focuses on Genetics, Exome sequencing, Mutation, Genome-wide association study and Pathology. Her study in Genetics concentrates on Locus, Haplotype, Candidate gene, Allele and Exome. Suzanne M. Leal has researched Haplotype in several fields, including Human genome and Genetic association.
Her work deals with themes such as Computational biology and DNA sequencing, which intersect with Genetic association. Suzanne M. Leal interconnects Vasoactive intestinal peptide receptor, Case-control study, Bioinformatics and Genetic architecture in the investigation of issues within Genome-wide association study. Her study focuses on the intersection of International HapMap Project and fields such as Tag SNP with connections in the field of Linkage disequilibrium, Imputation, Structural variation and Haplotype estimation.
Suzanne M. Leal spends much of her time researching Genetics, Locus, Gene, Genetic linkage and Exome sequencing. Suzanne M. Leal studied Genetics and Hearing loss that intersect with Nonsyndromic deafness. The various areas that Suzanne M. Leal examines in her Locus study include Genetic marker, Lod score, Gene mapping, Genetic heterogeneity and Candidate gene.
Her Genetic linkage study combines topics in areas such as Consanguinity, Chromosome and Mendelian inheritance. Her research in Genetic association intersects with topics in Genome-wide association study and Computational biology. Her study in Haplotype is interdisciplinary in nature, drawing from both Single-nucleotide polymorphism and Allele frequency.
Suzanne M. Leal mainly investigates Genetics, Exome sequencing, Missense mutation, Gene and Sanger sequencing. Allele, Pedigree chart, Genetic heterogeneity, Locus heterogeneity and Mendelian inheritance are subfields of Genetics in which her conducts study. Her Exome sequencing study integrates concerns from other disciplines, such as Intellectual disability, Inner ear, Polydactyly and Human genetics.
Her study looks at the relationship between Gene and topics such as Etiology, which overlap with Genetic variation, Ashkenazi jews, Allele frequency and Sensorineural hearing loss. Her Sanger sequencing research is multidisciplinary, incorporating perspectives in Transmission disequilibrium test, Three prime untranslated region, Exome and Compound heterozygosity. Suzanne M. Leal combines subjects such as Multiple comparisons problem and Linkage disequilibrium with her study of Transmission disequilibrium test.
Her primary areas of study are Genetics, Allele, Pedigree chart, Missense mutation and Exome sequencing. Her research in Genetic heterogeneity, Haplotype, Sanger sequencing, Exome and Genetic linkage are components of Genetics. Her Haplotype research integrates issues from Genetic architecture, Colorectal cancer and Clinical significance.
Her work carried out in the field of Allele brings together such families of science as Family aggregation, SORL1, Locus heterogeneity, Genetic association and Linkage. Her Missense mutation research is multidisciplinary, relying on both Aortic disease, MYLK, Kinase, Genetic testing and Myosin. The study incorporates disciplines such as Polydactyly, Anatomy and Compound heterozygosity in addition to Exome sequencing.
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A haplotype map of the human genome
John W. Belmont;Andrew Boudreau;Suzanne M. Leal;Paul Hardenbol.
A second generation human haplotype map of over 3.1 million SNPs
Kelly A. Frazer;Dennis G. Ballinger;David R. Cox;David A. Hinds.
Genome-wide detection and characterization of positive selection in human populations
Pardis C. Sabeti;Pardis C. Sabeti;Patrick Varilly;Patrick Varilly;Ben Fry;Jason Lohmueller.
Missing heritability and strategies for finding the underlying causes of complex disease
Evan E. Eichler;Jonathan Flint;Greg Gibson;Augustine Kong.
Nature Reviews Genetics (2010)
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
Jacob A. Tennessen;Abigail W. Bigham;Timothy D. O'Connor;Wenqing Fu.
Methods for Detecting Associations with Rare Variants for Common Diseases : Application to Analysis of Sequence Data
Bingshan Li;Suzanne M. Leal.
American Journal of Human Genetics (2008)
Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity : possible implications for opiate addiction
Cherie Bond;K. Steven LaForge;Mingting Tian;Dorothy Melia.
Proceedings of the National Academy of Sciences of the United States of America (1998)
Guidelines for investigating causality of sequence variants in human disease
D G MacArthur;T A Manolio;D P Dimmock;H L Rehm.
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
Wenqing Fu;Timothy D. O’Connor;Goo Jun;Hyun Min Kang.
Fatal Familial Insomnia, a Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene
Rossella Medori;Hans Juergen Tritschler;Andréa Leblanc;Federico Villare.
The New England Journal of Medicine (1992)
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