l**********1
发帖数: 5204 | 1 看英语没有问题的 人类基因组的新手的话
hg18 hg 19的区别
Why are some variants mapped to hg18 but not hg19?
When the variation data was mapped to hg19, we did our best to come up with
a process that would result in a low error rate, while maximizing the number
of variants kept in hg19. Due to changes in the underlying assembly, some
regions are re-arranged while others contain novel sequence, thus changing
the structure of the region. In most cases the assembly hasn't changed
enough to cause difficultly in remapping,... 阅读全帖 |
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l**********1
发帖数: 5204 | 2 please try
黄种人 白种人 黑人 1250 Hapmap database link:
//dgvbeta.tcag.ca/dgv/app/search?ref=NCBI36/hg18#tabs-view_all_info_study
注意 从最下边的网络地址向上看的话 就知道如何层层剥笋一般地 找到答案啦
//dgvbeta.tcag.ca/dgv/app/home?ref=NCBI36/hg18
//dgvbeta.tcag.ca/dgv/docs/20120409-DGV_Newsletter.pdf
//dgvbeta.tcag.ca/dgv/app/home?ref=NCBI36/hg18
//dgvbeta.tcag.ca/dgv/app/index.html
//projects.tcag.ca/variation/
//www.genenames.org/useful/genome-databases-and-browsers
//www.genenames.org/about/overview
//www.genenames.org/
from
ht... 阅读全帖 |
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a***y
发帖数: 2803 | 3 $genename =~ s/"//g; 是把"去掉.
$genename =~ s/" //g; 是把" 去掉.
这都是正则表达式的基本用法.建议你看看正则表达式.perl的这个功能很强大. |
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c**i
发帖数: 6973 | 4 Pam Belluck, Study Links Male Infertility to a Missing Protein; A mutation
may be a hurdle to conception, with a sperm viewed as an invader. New York
Times, July 21, 2011.
http://www.nytimes.com/2011/07/21/us
/21fertility.html?scp=1&sq=infertility%20china&st=cse
(a) Quote:
"Men with two copies of the defective gene do not produce the protein.
"besides the 25 percent of men with two mutated copies, half of men have one
mutated and one normal copy with no effect on fertility
(b) Note:
(i) The repo... 阅读全帖 |
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t**********y
发帖数: 374 | 5 $genename =~ s/"//g;
请问这是表示什么?
谢谢 |
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t**********y
发帖数: 374 | 6 $genename =~ s/"//g
那么这个呢?
" " 是什么功能? |
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t**********y
发帖数: 374 | 7 $genename =~ s/"//g;
打错了,不好意思. 是想问下, " 和"在这里的区别 |
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l**********1
发帖数: 5204 | 8 LZ你上哪个HUGO网站啦?
please go to:
//www.genenames.org/
or
//www.avatar.se/xref/wr/index
or
//www.ebi.ac.uk/uniprot/
then you never say that "HUGO上有什么resources，没看到啊" again |
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l**********1
发帖数: 5204 | 9 try
Avatar in Sweden:
www.avatar.se/xref/wr/index
then its noted:
HUGO
The History of HUGO
The Human Genome Organisation
History, Purposes and Membership – Dr. Victor A. McKusick, 1989, Genomics
The Human Genome Organisation (HUGO) was conceived in late April 1988,
//www.genenames.org/
//www.hugo-international.org/ |
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i********f
发帖数: 206 | 13 Gene: BAG3 (基因的名称 http://www.genenames.org/)
Position: 121429523 (这个突变在染色体上的位置,报告里面应该有说明是哪个基因组
版本，现在比较常见的是GHRC37/hg19)
Isoform: NM_004281 (由于选择性剪切,一般每个基因可以表达出多个蛋白, 这个表示
是哪个transcript,比较好的应该加上版本号,例如 NM_004281.3)
Location: exon2 (这个表示突变发生在哪个exon上,不确定是以转录还是以翻译为开始)
Nucleotide: C341A>G (c.341A>G在DNA基础上的突变,在341的位置由A变成了G, 341是
以翻译点为开始，ATG中的A标号是1)
Amino Acid pY114 (在蛋白基础上的突变，这个应该没写全，应该是p.Y114C)
Zygosity: Het (这个表示只有一条突变了，另一条是正常的，杂合子)
Referenc/comments: Novel variant (全新的突变)
AA/EA: N/R N/R (这个可能是表示popula... 阅读全帖 |
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