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Related Concept Videos

Expected Value01:15

Expected Value

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The expected value is known as the "long-term" average or mean. This means that over the long term of experimenting over and over, you would expect this average. The expected average is represented by the symbol μ. It is calculated as follows:
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Histone Variants at the Centromere02:30

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Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
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Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
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Suppose one wants to test independence between the two variables of a contingency table. The values in the table constitute the observed frequencies of the dataset. But how does one determine the expected frequency of the dataset? One of the important assumptions is that the two variables are independent, which means the variables do not influence each other. For independent variables, the statistical probability of any event involving both variables is calculated by multiplying the individual...
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Expected Frequencies in Goodness-of-Fit Tests01:19

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A goodness-of-fit test is conducted to determine whether the observed frequency values are statistically similar to the frequencies expected for the dataset. Suppose the expected frequencies for a dataset are equal such as when predicting the frequency of any number appearing when casting a die. In that case, the expected frequency is the ratio of the total number of observations (n)  to the number of categories (k).
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Stem cells are undifferentiated cells that divide and produce more stem cells or progenitor cells that differentiate into mature, specialized cell types. All the cells in the body are generated from stem cells in the early embryo, but small populations of stem cells are also present in many adult tissues including the bone marrow, brain, skin, and gut. These adult stem cells typically produce the various cell types found in that tissue—to replace cells that are damaged or to continuously...
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Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
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Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.

Kandamurugu Manickam1,2, Adam H Buchanan2, Marci L B Schwartz2

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Summary
This summary is machine-generated.

Exome sequencing identified five times more individuals with BRCA1/2 gene variants than traditional clinical testing. This genomic screening approach can detect potential cancer risks earlier, improving patient outcomes.

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Area of Science:

  • Genomics
  • Clinical Genetics
  • Cancer Research

Background:

  • BRCA1 and BRCA2 (BRCA1/2) gene variants are associated with increased cancer risk.
  • Early detection of these variants aids in cancer prevention and diagnosis for high-risk individuals.

Purpose of the Study:

  • To identify pathogenic and likely pathogenic (P/LP) BRCA1/2 variants in an unselected research cohort.
  • To characterize features associated with P/LP variants in this cohort.

Main Methods:

  • A cross-sectional study of 50,726 adult volunteers who underwent exome sequencing.
  • Correlation of clinical data from electronic health records with identified BRCA1/2 variants.
  • Comparison between participants with and without P/LP BRCA1/2 variants.

Main Results:

  • Exome sequencing identified 267 (0.5%) individuals with P/LP BRCA1/2 variants.
  • 82.0% of variant carriers had no prior clinical testing.
  • Variant carriers showed significantly higher personal histories of breast (OR, 5.95) and ovarian cancer (OR, 18.30) compared to non-carriers.

Conclusions:

  • Exome sequencing-based screening identified five times more individuals with P/LP BRCA1/2 variants compared to previous clinical care.
  • Genomic screening can uncover previously undetected BRCA1/2-associated cancer risks.
  • This approach offers opportunities to reduce cancer morbidity and mortality.