An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals - Wikidata - wikimedia - TriplyDB

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals

http://www.wikidata.org/entity/Q34299625

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"Is It Worth Knowing?" Focus Group Participants' Perceived Utility of Genomic Preconception Carrier Screening.Recent advances in prenatal genetic screening and testing Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results Classifying married adults diagnosed with alpha-1 antitrypsin deficiency based on spousal communication patterns using latent class analysis: insights for intervention The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening Analyzing the most frequent disease loci in targeted patient categories optimizes disease gene identification and test accuracy worldwide.Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels.Secondary findings and carrier test frequencies in a large multiethnic sample.It's complicated: criteria for policy decisions for the clinical integration of genome-scale sequencing for reproductive decision making.Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.Combination of a triple alpha-globin gene with beta-thalassemia in a gypsy family: importance of the genetic testing in the diagnosis and search for a donor for bone marrow transplantation for one of their children.Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?Changing trends in carrier screening for genetic disease in the United States Genetic Counselors' Perspectives and Practices Regarding Expanded Carrier Screening after Initial Clinical Availability.Expanded genetic screening panel for the Ashkenazi Jewish population.Pre- and post-test genetic counseling for chromosomal and Mendelian disorders.Responsible implementation of expanded carrier screening.Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases.Expanded carrier screening panels-does bigger mean better?Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities.Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing.Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.Experiences among Women with Positive Prenatal Expanded Carrier Screening Results.Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing.NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.The Israeli national population program of genetic carrier screening for reproductive purposes.Assessing risk for Mendelian disorders in a Bronx population.Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.With expanded carrier screening, founder populations run the risk of being overlooked.Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening.Carrier Screening: Past, Present, and Future.

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An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals

http://www.wikidata.org/entity/Q34299625

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2012 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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The ethics of characterizing difference: guiding principles on using racial categories in human genetics

Carrier screening in individuals of Ashkenazi Jewish descent

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

Carrier screening for spinal muscular atrophy

Estimating African American admixture proportions by use of population-specific alleles

Views on personalized medicine: do the attitudes of African American and white prescription drug consumers differ?

The Smith-Lemli-Opitz syndrome.

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

No association for Chinese HBV-related hepatocellular carcinoma susceptibility SNP in other East Asian populations.

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