Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence
주요 대립 유전자 참조 서열을 사용한 가족 4중주에서의 단계적 전체 게놈 유전적 위험
Research Article
[키워드] Accuracy
allele
Analysis
approach
Author
base pairs
base pairs)
Blood
blood clot
characterization
coding
compound heterozygosity
contribute
contributing to
demonstrated
develop
disease
disease risk
disease-associated
estimation
facilitate
family
Gene
genetic determinant
genetic determinants
genetic information
genetic profile
genetic risk
genetic risk factor
genetic risk factors
Genetic variation
Genome
genomes
Genotype
Haplotype
Human
human leukocyte antigen
identify
Interpretation
leukocyte
loci
lowest
lung
Major
median
medications
methodology
nuclear
nuclear family
occur
pharmacological
predisposition
Pulmonary embolism
quantification
Quartet
Recombination
reference
reference sequence
risk
Risk assessment
risk for disease
sequence
Sequencing
sequencing error
sequencing errors
therapy
Thrombophilia
variant
whole-genome sequencing
[DOI] 10.1371/journal.pgen.1002280 PMC 바로가기 [Article Type] Research Article
[DOI] 10.1371/journal.pgen.1002280 PMC 바로가기 [Article Type] Research Article