Through the analysis of the inheritance patterns that come to the surface in a pedigree analysis, several possible modes of inheritance are able to be identified. These are: Autosomal dominant traits, Autosomal recessive traits, X-linked dominant traits, X-linked recessive traits, and Y-linked tra...
Pedigree analysis provided information to support disease-specific patient management. CONCLUSION. WES detected a diagnostic molecular abnormality in 85% of families with HR phenotypes; PHEX variants were the most common. Combined use of WES and pedigree analysis highlighted the underdiagnosis of adult ...
Define petroleuse. petroleuse synonyms, petroleuse pronunciation, petroleuse translation, English dictionary definition of petroleuse. n a female individual who uses petroleum to cause explosions or fires Collins English Dictionary – Complete and Unabri
Handling marker-marker linkage disequilibrium: Pedigree analysis with clustered markers. Am J Hum Genet 2005; 77: 754–767. 23 Laird NM, Horvath S, Xu X. Implementing a unified approach to family based tests of association. Genet Epidemiol 2000; 19: S36–S42. 24 Dennis G, Sherman B, ...
Table 1. Summary of data characteristics, pedigree structure for total number of animals in the pedigree file (Total), and for animals with records (Data), and distribution of records in levels of environmental factors used in the analysis Data Empty Cell Empty Cell Number of records 8,773 ...
c Pedigree diagram showing segregation of the two variants found in the proband (arrow). d Sequence chromatograms showing compound heterozygous changes in PKHD1 c.6900C > T; p.(Asn2300=) (predicted to affect transcript splicing) and c.7964A > C; p.(His2655Pro) in the proband (ARPKD),...
Effect of fragile X on physical and intellectual traits estimated by pedigree analysis (p 415-422) The effect of fragile X on the mean values was found to be significant for all the traits, and much more conspicuous in male than in female individuals, th... - 《American Journal of ...
NUSAP: a method to evaluate the quality of assumptions in quantitative microbial risk assessment The Numeral Unit Spread Assessment Pedigree (NUSAP) system was implemented to evaluate assumptions in a quantitative microbial risk assessment (QMRA) model... I Boone,YVD Stede,J Dewulf,... - 《Journ...
Pedigree Standardization Task Force of the National Society of Genetic Counselors. Am J Hum Genet 56(3):745–752 Bensen JT, Liese AD, Rushing JT, Province M, Folsom AR, Rich SS, Higgins M (1999) Accuracy of proband reported family history: The NHLBI Family Heart Study (FHS). Genet ...
To account for correlated pairs belonging to the same pedigree, we computed the standard error of the logistic regression parameter using a robust sandwich estimator clustered by family as implemented in Stata/SE 10.1.16 When exposure of the random sib was available, the pairs were also used to...