Heidi L. Rehm focuses on Bioinformatics, Genetic testing, Genomics, Exome and Genetics. Her Bioinformatics research is multidisciplinary, incorporating elements of Medical genetics, Disease, Rare disease, Penetrance and Computational biology. The study incorporates disciplines such as Return of results, Concordance, Molecular pathology and Family medicine in addition to Medical genetics.
Her Genetic testing research includes elements of Gerontology, MEDLINE, Hypertrophic cardiomyopathy, Sequence and Data science. As part of her studies on Genomics, she often connects relevant areas like Medical education. Her Exome research also works with subjects such as
Heidi L. Rehm mostly deals with Genetics, Computational biology, Genetic testing, Genomics and Bioinformatics. In her study, which falls under the umbrella issue of Genetics, Genetic heterogeneity and Compound heterozygosity is strongly linked to Hearing loss. Her research integrates issues of Genome, Human genome, Disease, Human genetics and DNA sequencing in her study of Computational biology.
Heidi L. Rehm has included themes like Genetic counseling and Hypertrophic cardiomyopathy in her Genetic testing study. Her Genomics study incorporates themes from Data science, Identification, MEDLINE and Medical genetics. Her Bioinformatics research integrates issues from Return of results, Exome and Medical education.
Her primary areas of study are Exome sequencing, Data science, Computational biology, Genetics and Genomics. Heidi L. Rehm interconnects Proband, Microarray, Exon, Pediatrics and DNA sequencing in the investigation of issues within Exome sequencing. Her research on Computational biology also deals with topics like
Her studies deal with areas such as Susceptibility gene, Medical genetics and Identification as well as Genomics. Her Medical genetics research includes themes of Gene panel and Likely benign. Heidi L. Rehm has researched Phenotype in several fields, including Sensorineural hearing loss and Genetic testing.
Her primary areas of investigation include Intensive care medicine, Genomics, Genetic variation, Computational biology and Medical diagnosis. Her work deals with themes such as Genomic information, Identification, Representation, Molecular variation and Data science, which intersect with Genomics. Her Genetic variation study combines topics in areas such as Diagnostic accuracy, Precision medicine and MEDLINE.
The various areas that she examines in her Precision medicine study include Molecular pathology, Proband, MYH7 and Medical genetics. Her biological study spans a wide range of topics, including Internal medicine and Genetic testing. Her research in Computational biology intersects with topics in Leiden Open Variation Database, Dna variants, Genome and Human genetics.
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards;Nazneen Aziz;Nazneen Aziz;Sherri Bale;David Bick.
Genetics in Medicine (2015)
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Robert C. Green;Robert C. Green;Jonathan S. Berg;Wayne W. Grody;Sarah S. Kalia.
Genetics in Medicine (2013)
Guidelines for investigating causality of sequence variants in human disease
D G MacArthur;T A Manolio;D P Dimmock;H L Rehm.
Nature (2014)
ACMG clinical laboratory standards for next-generation sequencing.
Heidi L. Rehm;Sherri J. Bale;Pinar Bayrak-Toydemir;Jonathan S. Berg.
Genetics in Medicine (2013)
TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells
David P. Corey;David P. Corey;Jaime Garcia-Añoveros;Jeffrey R. Holt;Kelvin Y. Kwan;Kelvin Y. Kwan.
Nature (2004)
ClinGen — The Clinical Genome Resource
Heidi L. Rehm;Jonathan S. Berg;Lisa D. Brooks;Carlos D. Bustamante.
The New England Journal of Medicine (2015)
GJB2 mutations and degree of hearing loss: a multicenter study.
Rikkert L. Snoeckx;Patrick L M Huygen;Delphine Feldmann;Sandrine Marlin.
American Journal of Human Genetics (2005)
Assuring the quality of next-generation sequencing in clinical laboratory practice
Amy S Gargis;Lisa Kalman;Meredith W Berry;David P Bick.
Nature Biotechnology (2012)
Disease-targeted sequencing: a cornerstone in the clinic
Heidi L. Rehm;Heidi L. Rehm.
Nature Reviews Genetics (2013)
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
Laura M. Amendola;Gail P. Jarvik;Michael C. Leo;Heather M. McLaughlin.
American Journal of Human Genetics (2016)
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