Toehold probe-based interrogation for haplotype phasing of long nucleic acid strands
Author:
Affiliation:
1. Department of Chemical and Biological Engineering
2. The Hong Kong University of Science and Technology
3. Kowloon
4. Hong Kong
5. Department of Chemical and Biomolecular Engineering
Abstract
The arrangement of multiple single nucleotide polymorphisms (SNPs) in a gene, called a haplotype phase, is increasingly recognized as critical for accurate determination of disease risk and severity.
Funder
Research Grants Council, University Grants Committee
Publisher
Royal Society of Chemistry (RSC)
Subject
General Engineering,General Chemical Engineering,Analytical Chemistry
Link
http://pubs.rsc.org/en/content/articlepdf/2020/AY/D0AY00946F
Reference32 articles.
1. Simultaneous Genotype Calling and Haplotype Phasing Improves Genotype Accuracy and Reduces False-Positive Associations for Genome-wide Association Studies
2. Genetic interaction of Hsp70 family genes polymorphisms with high-altitude pulmonary edema among Chinese railway constructors at altitudes exceeding 4000 meters
3. Non-invasive prenatal testing of pregnancies at risk for phenylketonuria
4. A combined long-range phasing and long haplotype imputation method to impute phase for SNP genotypes
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