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Questions tagged [hg19]

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1 vote
0 answers
36 views

How should I prepare human genome reference file?

Currently I'm trying to perform whole mtDNA sequencing and mapping to reference genome to extract variants. To minimise the nuMT (nuclear mt DNA segment), I'm going to use the hg19 human genome as a ...
uri's user avatar
  • 85
1 vote
1 answer
29 views

How important are the homozygous variants that get unnecessarily deleted using liftover?

I'm referring to the text described here: These tools [NCBI remap, CrossMap] operate only on the sites present in an input VCF, and return the representation of those sites in a new genome assembly. ...
BigMistake's user avatar
0 votes
1 answer
62 views

Is a human genome file with reference as NCBI37 the same as hg19?

This question was also asked on Biostars In other words, are NCBI37 and hg19 synonymous? I can't find much information for what NCBI37 is in a human (not mouse) genome. The VCF is from a lab ...
BigMistake's user avatar
1 vote
2 answers
433 views

Converting .bw files to .fq (fastq)

I am able to convert .bw files to .fq(fastq) manually in Shell, but I would like to automate the process coz I have hundreds of .bw file that I need to convert. Till now, I could think of following ...
Sam's user avatar
  • 19
0 votes
2 answers
191 views

HG19 Position meaning

I am looking at genomic data (HG19). I have many SNPs, their chromosomes and positions. I want to look at certain SNP (suppose its chromosome is 1 and position 77,226,919), and extract all SNPs in ...
Kozolovska's user avatar
0 votes
1 answer
333 views

Get regions' information from DNA sequence data (bsgenome.hsapiens.ucsc.hg19)

I have a problem in R. I have the following dataSet (the first three rows shown) (the 5th number is the methylation level in its region): ...
Giannis Lazaridis's user avatar
0 votes
3 answers
127 views

Gene information from chromosome location

I have a file that contains species name, chromosome, start and end locations like the following format hg19,chr8,77778733,77779026. I would like to know some ...
SBDK8219's user avatar
  • 195