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=Exome Sequencing Project= * Text of Dr. Zhang's Email: Iβm sending you a list of NA12878 variants called from ~40 millions high quality reads. I have pretty good feeling about these calls using a simple filter of depth >=8x and SNP quality >=30. Can you please help me to get the following numbers: (1) What is the total size of exonic region that were covered by >=8x in this data set? For that you will need the pileup file which is available on genome-tech in my folder: WorkSpace/Exome/Solexa/NA12878/ NA12878_061009_061109_080509_081309_40bp_sequence.bowtie.pileup (2) How many variants found are within these regions and how many located outside of our target regions (non-specific capture)? (3) How many SNPs and variants did you see in Hapmap and 1KG data sets, and how consistent our variant calls are compared with the reference data? (4) If you remove some apparent false-positives that tends to localize very close to each other (probably due to mapping issues), what the numbers are in (3)? (5) Using 1KG data as reference, what is our false positive rate as the function of the filter we used? This could be plotted as a curve. Also what is the total variants we can call as the function of false- positive rate? We will submit this data set to the exome sequencing program to compare with data generated by two other centers. Ideally we should have these numbers before we submit the data. Thanks! Kun * Ylaine is currently working on #1 * I am working on number 4 - building null distribution for 1KG set to determine distance between two adjacent SNPs.
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