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18 votes
Accepted

Accuracy of the original human DNA datasets sequenced by Human Genome Project?

The HGP developed the first "reference" human genome - a genome that other genomes could be compared to, and was actually a composite of multiple human genome sequences. The standard human reference ...
kevbonham's user avatar
  • 298
8 votes

Accuracy of the original human DNA datasets sequenced by Human Genome Project?

While the quality of the reference human assembly keeps improving, there are still misassemblies in it. A common problem is recent segmental duplications are occasionally collapsed into one sequence ...
user172818's user avatar
  • 6,535
3 votes

Associating SNP and GENE

Use the Variant Effect Predictor(VEP)
Emily_Ensembl's user avatar
2 votes

How can I find the position of every mutation where the Allele Frequency is greater than X, in regards to a reference such as Hg19?

Hello and welcome to the world of bioinformatics, BAM files are compressed formats of SAM and you can read more about it here. To answer your question, I presume that your BAM is generated from a ...
user324810's user avatar
  • 1,125
2 votes

Associating SNP and GENE

You can use snpEff or snpSIFT java annotator also for hg19.
Andrea Spinelli's user avatar

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