Difference between revisions of "Emilie Uffman"

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"A mutation in this gene can cause chromosomal missegregation, aneuploidy and apoptosis"
 
"A mutation in this gene can cause chromosomal missegregation, aneuploidy and apoptosis"
  
 +
CENPA segmental haploidy of chr5 in mice is known to cause Wolf-Hirschhorn syndrome
 +
-conserved sentence to human 4p16.3
 +
Symptoms:
 +
-'Greek warrior helmut facial appearance'
 +
-mental retardation
 +
 +
Naf D, Wilson LA, Bergstrom RA, Smith RS, Goodwin NC, Verkerk A, van Ommen GJ, Ackerman SL, Frankel WN, Schimenti JC, Mouse models for the Wolf-Hirschhorn deletion syndrome. Hum Mol Genet. 2001 Jan 15;10(2):91-8
  
  
 
'''Excel tools:'''
 
'''Excel tools:'''
 
Truncate numbers in excel: =left (A1, 18)
 
Truncate numbers in excel: =left (A1, 18)

Revision as of 21:01, 7 February 2017

Comparison of maternal trisomy and disomy (CB131,126,117,125,122,121) with Paternal trisomy and disomy (CB091,089,087,093,100,103)

-the limited variation in paternal disomy and trisomy is conserved

-maternal still has variation

-there is no clear divide between gender along PC1--what does this mean?


Sorting of paternal trisomy data(Emilie) and maternal trisomy data (Jon):

Use galaxy sort tool to sort p-value in ascending order

Why is it that for many of the data there is a base mean and all statistics but no p-value?

ENSMUST00000000674.12 Base mean: 8.06384358972545 LogFC: 0.0460016853044759 Std Error: 0.0883691926491015 Wald-Stats: 0.520562471212569 P-value: NA P-adjusted: N

    • See Jon's notes for information on question**

Filtered data on galaxy to remove data with 'NA' -skip 0 header line- Only retained 70.41% of data when filtering to remove 'NA'

Copied data to excel and use shortcut to removal decimals without rounding

Copy (100lines of) data into MGI Database

http://www.informatics.jax.org/batch/summary#myDataTable=results%3D25%26startIndex%3D0

CENPA Gene (Centromere Protein A) located on Chromosome 5, 16.76

"Phenotype Overview: cardiovascular system, cellular, craniofacial, embryo, growth/size/body, mortality/aging, nervous system"

"A mutation in this gene can cause chromosomal missegregation, aneuploidy and apoptosis"

CENPA segmental haploidy of chr5 in mice is known to cause Wolf-Hirschhorn syndrome -conserved sentence to human 4p16.3 Symptoms: -'Greek warrior helmut facial appearance' -mental retardation

Naf D, Wilson LA, Bergstrom RA, Smith RS, Goodwin NC, Verkerk A, van Ommen GJ, Ackerman SL, Frankel WN, Schimenti JC, Mouse models for the Wolf-Hirschhorn deletion syndrome. Hum Mol Genet. 2001 Jan 15;10(2):91-8


Excel tools: Truncate numbers in excel: =left (A1, 18)