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Genetic screening method

Known as: genetic screening test, genetic analysis, Genetic Testing 
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease… 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2018
Highly Cited
2018
Abstract ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, public archive of human genetic variants and… 
Review
2017
Review
2017
The first edition of the European LeukemiaNet (ELN) recommendations for diagnosis and management of acute myeloid leukemia (AML… 
Highly Cited
2015
Highly Cited
2015
Disclaimer: These ACMG Standards and Guidelines were developed primarily as an educational resource for clinical laboratory… 
Highly Cited
2015
Highly Cited
2015
Purpose— To examine predictors of ammonia exposure and hyperammonemic crises (HAC) in patients with urea cycle disorders (UCDs… 
Review
2015
Review
2015
This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The… 
Highly Cited
2013
Highly Cited
2013
BACKGROUND Whole-exome sequencing is a diagnostic approach for the identification of molecular defects in patients with suspected… 
Highly Cited
2012
Highly Cited
2012
Most human pre-mRNAs are spliced into linear molecules that retain the exon order defined by the genomic sequence. By deep… 
Review
2011
Review
2011
This international consensus statement provides the state of genetic testing for the channelopathies and cardiomyopathies. It… 
Review
2010
Review
2010
Beta-thalassemia is caused by the reduced (beta+) or absent (beta0) synthesis of the beta globin chains of the hemoglobin…