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Compound heterozygosity
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21	Articles A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data © 2014 Nature America, Inc. All rights reserved. Add to Reading List Source URL: www.yandell-lab.org Language: English - Date: 2014-07-09 14:24:10 Genetic linkage Compound heterozygosity Exome sequencing Penetrance Full genome sequencing Genetic screen Genetic disorder Human genome Single-nucleotide polymorphism Biology Genetics Philosophy of biology
22	Hereditary Haemochromatosis Fact Sheet 36 Important points  Add to Reading List Source URL: www.genetics.edu.au Language: English - Date: 2014-07-31 02:39:45 Medical genetics Hepatology Iron overload HFE hereditary haemochromatosis HFE Compound heterozygosity Genetic disorder Recessive Genetic testing Biology Medicine Genetics
23	Hum Genet[removed]:1077–1130 DOI[removed]s00439[removed]REVIEW PAPER Where genotype is not predictive of phenotype: towards Add to Reading List Source URL: www.biobase-international.com Language: English - Date: 2013-09-16 10:53:03 Medicine Penetrance Compound heterozygosity PRPF31 Ataxia telangiectasia Retinal Degeneration Mutation HFE hereditary haemochromatosis Expressivity Genetics Biology Health
24	Genetic Disease Review: An Overview of Publications Featuring Illumina Technology Add to Reading List Source URL: res.illumina.com Language: English - Date: 2013-07-16 12:25:59 Genomics DNA sequencing DNA Exome sequencing Full genome sequencing Exome Illumina Genome Compound heterozygosity Biology Genetics Molecular biology
25	Positive Controls are Now Available! Laurina O. Williams, Ph.D., MPH Co-Manager MPEP Division of Laboratory Services Coordinating Center for Health Information and Service Add to Reading List Source URL: wwwn.cdc.gov Language: English - Date: 2006-11-06 14:30:59 Genetics Biotechnology Rare diseases Compound heterozygosity Genetic testing Centers for Disease Control and Prevention Hemoglobin Mutation Embryonic stem cell Biology Medicine Health
26	Health Care Provider Hemoglobinopathy Fact Sheet Hemoglobin S Hemoglobin S is an inherited variant of normal adult hemoglobin (hemoglobin A). It results from a substitution of valine for glutamic acid in the sixth posit Add to Reading List Source URL: www.doh.wa.gov Language: English - Date: 2013-01-03 18:24:53 Health Hematopathology Fetal hemoglobin Hemoglobin C Thalassemia Hemoglobin Sickle-cell disease Sickle cell trait Compound heterozygosity Hematology Medicine Hemoglobins
27	REVIEW Autozygome decoded Fowzan S. Alkuraya, MD Abstract: Consanguineous unions permit the “reunion” of ancestral chromosomal segments in a pattern referred to as “autozygosity,” which Add to Reading List Source URL: www.nature.com Language: English - Date: 2012-01-04 14:21:02 Microsatellite Inbreeding International HapMap Project Single-nucleotide polymorphism Human genome Full genome sequencing Human genetics Consanguinity Compound heterozygosity Biology Genetics Philosophy of biology
28	The Gene Gateway Workbook[removed] Add to Reading List Source URL: web.ornl.gov Language: English - Date: 2013-07-23 12:52:07 HFE Human genome Gene Iron overload Online Mendelian Inheritance in Man Bioinformatics Mutation DNA Compound heterozygosity Biology Genetics Philosophy of biology
29	Newborn Screening for Biotinidase Deficiency Add to Reading List Source URL: www.kdheks.gov Language: English - Date: 2012-02-06 15:23:18 Genetic genealogy Thalassemia Hemoglobinopathy Alpha-thalassemia Beta-thalassemia Hemoglobin Anemia Sickle-cell disease Compound heterozygosity Hematology Medicine Hemoglobins
30	Guidelines for investigating causality of sequence variants in human disease Add to Reading List Source URL: www.nature.com Language: English - Date: 2014-04-23 12:59:46 Human genetic variation Leiden Open Variation Database Exome sequencing Wellcome Trust Sanger Institute Genomes Project Compound heterozygosity Genome project Medical genetics Penetrance Biology Genetics Human genome

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