高pLI分数(接近1)表示该基因可能无法容忍LoF变异,即LoF变异可能导致疾病。这通常用于评估基因的致病性。 AF_gnomAD_2.1.1: 这是指在gnomAD数据库(Genome Aggregation Database)版本2.1.1中观察到的等位基因频率(Allele Frequency)。这个频率显示了在广泛人群中特定变异的普遍程度。较低的频率可能表明变异与疾病相关。
Frequencies of 1.6% or more of the variant allele when compared with the reference allele30 are shown Both parkin and pink1 are known to genetically interact in Drosophila, and Parkin and p62 were shown to physically interact in mammalian cells.6 We therefore decided to test the role of Ref(...
In two tumors, the paternal allele was methylated, whereas the maternal allele had been lost. Cultured cells from one of these tumors were studied by the reverse transcription polymerase chain reaction and found to have a reduced level of RB1 mRNA. The third tumor had retained constitutional ...
a所有冠心病组和对照组相比,多态性基因型和等位基因分布频率差异无统计学意义 All coronary disease group and the control group compare, polymorphism genotype and allele distribution frequency difference non-statistics significance[translate] aI want you each to plant some flowers as a peace offering 我要您...
Google Preview A condition in which alleles at two loci or genes are found together in a population at a greater frequency than predicted simply by the product of their individual allele frequencies. Alleles at markers near disease-causing genes tend to be in linkage disequilibrium in the affected...
MAF=minor allele frequency, HWE=Hardy Weinberg Equilibrium, f=female, m=male. ProbABEL Nature Genetics: doi:10.1038/ng.571 4 Supplementary Table 3. Sample quality control for studies in the TAG Consortium. Study Call rate Population-based cohort studies ARIC >90% BLSA >97% CHS InCHIANTI ...
We defined "replicating SNPs" (in European Americans) and "generalizing SNPs" (in other racial/ethnic groups) as those associated with an allele frequency-specific increase in BMI. Results: By this definition, we replicated 9/13 SNP associations (5 out of 8 loci) in European Americans. We ...
In the first category the frequency of the HLA B27 allele was compared between those who had attained remission and those who had not. In the second and third categories the rate at which amyloidosis developed and the timing for the need of arthroplasty, were compared for HLA B27-positive ...
Given the location of the mutation within an alternatively spliced exon of APC, it is conceivable that normal APC proteins are produced from the mutant allele by alternative splicing.doi:10.1007/BF00210303RB VANDERLUIJTHFA VASENCMJ TOPSC BREUKEL...
Sporadic ATM mutations occur in 10-20% of chronic lymphocytic leukemia and are often associated with chromosome 11q deletions which cause loss of an ATM allele. The role of constitutional ATM mutations in the pathogenesis of chronic lymphocytic leukemia is unknown...