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SAMPLE DATA FILES These sample files are from the actual dataset which is private 1) MT_321_120501_Direct_d500k.vcf sample .vcf file 2) information file ROSMAP_SamplesInfoForMito.txt CODE AND CORRESPONDING RESULT FILES ################# PART 1 - global statistics 1)test1.R extracts relevant features from the .vcf files and index file Output files: ADindRat.txt NADindRat.txt 2) stats_Test.R computes basic statistics on output of 1) 3) hyp_test_new.R doing all the hypothesis testing described in the paper 4) ml_test.R machine learning a) plotting raw data b) logistic / probit regression with the 70-30 train test split 5) ml_part2.R generating the ROC curve with LOOCV 6) pmi_test.R testing whether the metadata variable 'post-mortem interval' is related to AD/NAD with t-test. ############ PART 2 RARE AND COMMON MUTATIONS 7) rarecommon_test.R obtaining information (by thresholding; <=3 -> rare) of rare and common mutations Output: mutation_info.txt commonmutation_info3.txt raremutation_info_thresh3.txt 8) rarecommon2_test.R go through each .vcf file and count number of rare mutations in it. also check if AD or not; ouput: ADind_withrare_thresh3.txt NADind_withrare_thresh3.txt 9) stats_rare.R computer simple stats on rare mutation information 10) hyp_test_rare.R hypothesis testing AD/NAD and total number of rare mutations in the cell 11) common.R building file of containing binary indicator vector for presence/absence for each common mutation output: ADind_common3.txt NADind_common3.txt 12) stats_common.R compute simple stats on common mutations for each mutated position 13) hyp_common.R hypothesis testing for each common mutation ########################## PART 3 14) number_mit.R obtaining number of mitochondria (estimate from average read depth) for each cell which contains a mutation (rare and/or common) output: AD_mitCount.txt NAD_mitCount.txt 15) stats_mit.R simple statistics on the results of 14) 15) correln_mit spearmann2 correlation coefficient for each mutation and read depth
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