American College of Medical Genetics

Results: 405



#Item
61Microarrays / Bioinformatics / DNA / Gene expression / SNP array / DNA microarray / Loss of heterozygosity / Comparative genomic hybridization / Copy-number variation / Biology / Genetics / Molecular biology

Original Research Article © American College of Medical Genetics and Genomics Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities

Add to Reading List

Source URL: www.nature.com

Language: English - Date: 2013-09-05 11:06:25
62Genomics / Human genome / Medical genetics / Genetic counseling / American College of Medical Genetics / Geneticist / Public health genomics / Personal genomics / Biology / Genetics / Medicine

research highlights ©American College of Medical Genetics and Genomics In this Issue The hereditary ataxias: a review

Add to Reading List

Source URL: www.nature.com

Language: English - Date: 2013-09-05 11:05:58
63Chromosomes / Molecular genetics / Isodicentric 15 / Karyotype / Comparative genomic hybridization / Aneuploidy / Small supernumerary marker chromosome / Y chromosome / Array-comparative genomic hybridization / Genetics / Biology / Cytogenetics

©American College of Medical Genetics and Genomics Systematic Review A systematic analysis of small supernumerary marker chromosomes using array CGH exposes

Add to Reading List

Source URL: www.nature.com

Language: English - Date: 2013-01-04 11:11:09
64Medical genetics / Prevention / Screening / Cancer screening / Genetic counseling / American College of Medical Genetics / Newborn screening / Medicine / Health / Medical tests

Population-Based Carrier Screening Work Group Interim Report Meredith Weaver, PhD, ScM, CGC ACMG

Add to Reading List

Source URL: www.hrsa.gov

Language: English - Date: 2014-12-04 01:13:00
65Bioinformatics / Molecular biology / DNA / Inbreeding / Coefficient of relationship / Cousin marriage / Loss of heterozygosity / Consanguinity / DNA microarray / Biology / Genetics / Kinship and descent

ORIGINAL RESEARCH ARTICLE ©American College of Medical Genetics and Genomics Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease

Add to Reading List

Source URL: www.nature.com

Language: English - Date: 2013-01-04 11:11:56
66Genomics / Pharmacology / Polymorphism / Pharmacy / Pharmacogenomics / Genome-wide association study / Personalized medicine / Genotype / Phenotype / Biology / Genetics / Medicine

©American College of Medical Genetics and Genomics SYSTEMATIC REVIEW Mapping the incidentalome: estimating incidental findings generated through clinical pharmacogenomics testing

Add to Reading List

Source URL: www.nature.com

Language: English - Date: 2013-05-06 11:00:35
67Genomics / Molecular biology / Bioinformatics / Medical genetics / American College of Medical Genetics / Full genome sequencing / Exome sequencing / Exome / Association of Canadian Mountain Guides / Biology / Genetics / Medicine

ACMG Policy Statement © American College of Medical Genetics and Genomics Points to consider for informed consent for genome/exome sequencing

Add to Reading List

Source URL: www.nature.com

Language: English - Date: 2013-09-05 11:06:39
68Newborn screening / Pediatrics / Health Resources and Services Administration / Maternal and Child Health Bureau / Genetic counseling / American College of Medical Genetics / Health / Medicine / Epidemiology

Microsoft PowerPoint - watson.ppt

Add to Reading List

Source URL: www.hrsa.gov

Language: English - Date: 2014-12-04 01:13:19
69Newborn screening / Pediatrics / Medical specialties / Screening / American College of Medical Genetics / Medical genetics / Bioethics / Medicine / Health / Epidemiology

The Changing Moral Focus of Newborn Screening

Add to Reading List

Source URL: www.hrsa.gov

Language: English - Date: 2014-12-04 01:13:46
70Molecular biology / Ciliopathy / Genomics / DNA / Bardet–Biedl syndrome / Human genome / Exome sequencing / Genetic disorder / Medical genetics / Biology / Genetics / Medicine

ORIGINAL RESEARCH ARTICLE ©American College of Medical Genetics and Genomics Open

Add to Reading List

Source URL: www.nature.com

Language: English - Date: 2013-05-06 10:59:49
UPDATE