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全部话题 - 话题: alleles
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O*******d
发帖数: 20343
1
来自主题: Military版 - DNA这个确实很搞
DNA做法律上的辨别,要用多个allele. 尽管每个allele有99%甚至更高的相似度。
allele做得越多,两个人的重合性就约低。1995年OJ Simpson案子审判时,
DNA辨别的不确定性在10亿分之一。可靠度99.9999999%.
w********9
发帖数: 8613
2
以下是第19001到第20000的word families的开头:
ABAYA 0
ABAYAS 0
ABEAM 0
ABLATE 0
ABLATED 0
ABRACADABRA 0
ACETYL 0
ACIDOPHILUS 0
ACROMEGALY 0
ACROMEGALIA 0
acromegalic 0
ACTE 0
ACTES 0
ACTINIC 0
ACUPRESSURE 0
ACYL 0
ADAMANTINE 0
ADRENERGIC 0
ADRENERGICALLY 0
ADVERTORIAL 0
ADVERTORIALS 0
AEROGRAMME 0
AEROGRAM 0
AEROGRAMMES 0
AEROGRAMS 0
AFLATOXIN 0
AFLATOXINS 0
AITCH 0
AITCHES 0
ALENDRONATE 0
ALEPH 0
ALEWIFE 0
... 阅读全帖
C******y
发帖数: 3249
3
我的最关键的预言被证实了
自然杂志宣布过,白人不感染 SARS1.0
Taiwanese scientists find genetic link to SARS
Yu-Tzu Chiu
Nature Medicine volume 9, page1335(2003)Cite this article
163 Accesses
3 Citations
2 Altmetric
Metrics details
A genetic variant in the immune system might render some groups of people
more susceptible to severe acute respiratory syndrome (SARS) infection,
Taiwanese researchers report.
Waiting to exhale: People in South China and Taiwan may be genetically
susceptible to SARS. Credit: Richard Chung/Reute... 阅读全帖
M*****n
发帖数: 16729
4
Basically, inbreeding dramatically increases the frequency of homozygosity,
which is the cause of lots of recessive genetic disorders in human being.
eg. regarding allele a, the ratio of homozygotes (aa) among the progenies of a
random mating is only a*a, while from an inbreeding you mentioned is 1/64.
Usually the recesssively pathogenic alleles are rare, and thus a<<1/8.
Therefore the risk for your gf to get two a alleles, which results in a
recessive homozygote, is much higher than the others.
V****n
发帖数: 651
5
来自主题: Parenting版 - 智商高可以小学上gifted school?
TRENDS in Genetics Vol.17 No.12 December 2001
A high density of X-linked genes for general cognitive ability: a run-away
process shaping human evolution?
假设X染色体上有两个基因A和B,因为染色体是双螺旋结构,所以两个基因的Allele分
别是A1,B1和A2,B2
只有A1,A2都拥有才是高智商,对於女性这必须是A1,A1和A2,A2才可以,对于男
性只要A1 - 和A2 - 就可以 (- 代表缺乏对应的Y染色体)
对这个简单例子我们可以用穷举法,先从母亲携带A1,B1和A2,B2,父亲携带A1,
-和B2, - 开始:
女儿必须得到母亲A1,B1当中的一个Allene,和A2,B2当中的一个,同时必须从父亲的
X染色体A1和B2中选一个,那么有四种可能:
A1, A1和A2,B2 (非高智商)
A1,A1和B2,B2(非高智商)
B1,A1和A2,B2(非高智商)
B1,A1和B2,B2(非高智商)
或言之没有一个女儿会是高智商。... 阅读全帖
s***l
发帖数: 2236
6
☆─────────────────────────────────────☆
iamtheretoo (iamhereiamthere) 于 (Mon Aug 29 15:34:54 2011, 美东) 提到:
听说美国也有gifted school,我们正在准备买房,有朋友劝我们不用考虑学区,因为
以后女儿可以上gifted school。对女儿的智力很有信心,有疑惑:
这种学校是怎么选拔的?也有考试?
是不是不用自己交钱,比私立学校好吗?
听说会有专门的校车接送孩子,是不是就不用考虑离家远近了?
谢谢!!
☆─────────────────────────────────────☆
mitbbser1 (mitbbser) 于 (Mon Aug 29 15:39:26 2011, 美东) 提到:
不要钱, 是公立系统的一部分. 因材施教, 就和智力落后的孩子需要特殊教育一样.
gifted program具体执行因学区而异, 你得自己在当地打听.
☆─────────────────────────────────────☆
winterlake (冬... 阅读全帖
t******l
发帖数: 10908
7
[quote]
ADHD patients with the 4.7 allele also tend to have better cognitive
performance and long-term outcomes compared to ADHD patients without the 4.7
allele, suggesting that the allele is associated with a more benign form of
ADHD.
[/quote]
http://en.wikipedia.org/wiki/Dopamine_receptor#Attention-deficit_hyperactivity_disorder
a***r
发帖数: 420
8
谢谢,非常有用的网页
可是,只能返回alleles和ancestral allele啊,我想要的是minor allele,还是有这
个选项我没看到@@
c*********t
发帖数: 340
9
来自主题: Biology版 - 请教loss of heterozygosity
大家在说LOH的时候都习惯想到一个Allele deletion的情况
但是有另一种copy neutral LOH,并不涉及DELETION
或者只有一个Allele,或者两个同样的allele
能不能产生蛋白,要看突变的类型
比如premature stop codon常常会导致non-sense mediated decay
mRNA被降解
不会产生蛋白
无义突变和很多Frameshift mutation都会这样:)
错义突变之类的应该会有蛋白合成
但是功能上的变化就要具体情况具体分析了
hope it helps :)
l****y
发帖数: 398
10
来自主题: Biology版 - 吵起来了,关于GWAS
As if these studies can match up with Mendel's in terms of reproduciblity
and predicablity

意义,但是他作为data point和疾病associated (LD很强大)。他们不持生物学家而是
遗传学家的观点。
了,他得必须告诉人家豌豆变异的生物学原因,但是他貌似只能证明遗传因子的理论上
存在和行为特点。。。现在遗传学家就是说明有这个事儿,生物学家你就别总是急吼吼
地问到底这个东西怎么起作用了。。。
disease are affacted because they share the same disease susceptibility
alleles.
disease)是由不同并且少数的mutations控制的,比如,胖子A有A,B,C位点的
rare alleles,而胖子B有D,E,F位点的rare alleles。诡谲的是,两个人也许就不共
享rare mutations,但是common in 胖。。。Again, different QTL segragate in
differ
r*****l
发帖数: 457
11
来自主题: Biology版 - Gay基因找到了吗?
common disease common variant (CDCV) 或许可以解释gay 基因
简单的说,某个人是gay是因为他运气不好,把所有gay相关allele都组合齐了。而单个
allele不会表现gay。所有这些allele总以一定的频率存在于人群。
不知道gay是不是这种情况?
y*****1
发帖数: 73
12
来自主题: Biology版 - 请教遗传学问题
One locus means one gene, and describes the position of the gene in one
chromosome.
Human is diploid which has two sets of chromosomes, therefore for one locus
(one gene) should have 2 alleles.
For example, MHC class II is a locus (means a gene), it has 2 alleles (means
2 copies of the gene). One is from your mom and one from your dad.
Allele could also mean variants (polymorphism), means the variation of the
gene sequence. It is caused by mutation during evolution. The MCH is highly
polymorphic... 阅读全帖
g***y
发帖数: 201
13
1. A lot of expression vectors contain SV40 pA or BGH pA. You can simply
PCR adding those sequence right after the stop codon.
2. It all depends on how you design your KI allele. If your KI allele is
only to replace one exon, then you don't need to worry about anything. If
you are to insert a cDNA sequence right at the 1st exon,
then you may have to worry about non-sense mediated dacay. In this case, it
would be safer to add an exogenous pA.

allelle
m******5
发帖数: 1383
14
来自主题: Biology版 - 请教个knock- in scheme的问题
in LZ's case, if he made the construct exactly by the strategy he proposed.
It would for sure introduce NMD.
But my questions is that, how extensive would NMD work? it is for sure that
small proportion of accidentally created frame shift should be eliminated
by NMD.
But in LZ's case, what kind of allele would he create exactly?
a null allele producing all mRNA subjected to NMD? or a hypormorphic allele
with the major proportion degraded by still capable of producing an moderate mount of prote... 阅读全帖
n********k
发帖数: 2818
15
来自主题: Biology版 - 请教个knock- in scheme的问题
Are u asking about NMD or genetraps? I thought your original questions were
about finding genetraps...as for NMD, as far as my knowledge goes(I have
not updated myself on the research area for 4-5 ys), I don't think we know
enough to answer your question...but I am not sure whether your assertion
about "it would for sure introduce NMD"...hard to say, one would have to
look at the design in details to be more certain...and ultimately it is the
nature rules...I don't think a null allele would all... 阅读全帖
f******p
发帖数: 178
16
来自主题: Biology版 - 请教一个基础问题
一个单拷贝基因在二倍体中的两个copies叫什么? alleles?
在四倍体中,是不是有两个paralogs, 每个paralog 有两个alleles?
对于多倍化发生时间较短的四倍体,难以区分各个paralog,是不是四个copies都可以
叫allele?
y******8
发帖数: 1764
17
如果是SNP,如果这个人是正常的,那么A和a来自一个亲本的可能性小于10-6。
如果这个人有很严重的疾病,那么细胞为了活下来,巨大的演化压力可能会把一个
allele给去掉。所以,从Aa出发,会出现AA,Aa或者Aa,aa.但一般不会有三个。
如果是重复序列, 正常人里多于2个allele的可能性很小,<10-6. 但是,如果在某些病
人里,几十种allele可以同时存在。
生物就是这样,充满了例外。
q***7
发帖数: 144
18
来自主题: Biology版 - Help: mouse genotyping by sequencing
我建议他应该第一次用GEL回收,这样第一步就去除了绝大多数的GENOMIC DNA,然后后
面看情况。如果还是有很多的杂带,还是要用胶回收,然后再做PCR。
另外,找你wildtype allele上有但KI allele上没有的酶切位点的那个酶消化一下的
PCR产物,胶回收后再做PCR,这样去除了wildtype allele信号。
如果PCR产物不纯,肯定测不出东西来。信号就乱套了。我曾经测过不纯的质粒,都有
测序引物结合点,结果什么信号都没有(很弱的杂信号)
另外,你说的BLAST一堆位点,这可以提高一下退火温度就基本上可以解决。因为他们
是部分binding。
m****M
发帖数: 360
19
来自主题: Biology版 - Help: mouse genotyping by sequencing
就算是你所说的mistargeted allele也不会扩增出wildtype allele。你根据你什么结
果说是"所以我觉得我实际上是造了我图上画的mis-targeted allele 了。"?
你不要老是想着别人知道你没有说的东西。你让别人帮忙帮你分析,你要尽量把你的信
息给全。没有人有时间来回问你,然后回答,问你然后回答的。 你给老板汇报工作是
这样的吗?
s******9
发帖数: 283
20
NCBI protein database一般都有标注吧。
FEATURES Location/Qualifiers
source 1..503
/organism="Homo sapiens"
/db_xref="taxon:9606"
gene 1..503
/gene="TGFBR1"
/gene_synonym="ALK5"
/gene_synonym="SKR4"
Protein 1..503
/gene="TGFBR1"
/gene_synonym="ALK5"
/gene_synonym="SKR4"
... 阅读全帖
n**e
发帖数: 2026
21
同意,这是权威解释。前一段在这里;
The major hurdle that must be overcome in the development of new inbred
strains from wild populations is inbreeding depression which occurs most
strongly between the F2 and F8 generations. The cause of this depression is
the load of deleterious recessive alleles that are present in the genomes of
wild mice as well as all other animal species. These deleterious alleles
are constantly generated at a low rate by spontaneous mutation but their
number is normally held in check by th... 阅读全帖
D*a
发帖数: 6830
22
来自主题: Biology版 - 生男生女是随机事件吗?
你自己看吧
1
00:00:01,200 --> 00:00:03,130
Hello, and welcome back to Animal
Behavior.
2
00:00:04,590 --> 00:00:06,189
When sexually reproducing animals
produce
3
00:00:06,189 --> 00:00:08,330
their offspring, they have a choice.
4
00:00:08,330 --> 00:00:13,030
They can produce either a son or a
daughter in any given reproductive event.
5
00:00:13,030 --> 00:00:15,730
In this lecture, we'll look at the
question of whether in certain
6
00:00:15,730 --> 00:00:17,330
circumstances it might pay parents t... 阅读全帖
f******t
发帖数: 2699
23

另一个有 off-target嫌疑的技术?没有证据表明,abp1-c1 是否影响到其它target,
尽管回交了一下;然后,他们也提到可能有紧密连锁的其它突变(off-target所致)无
法清掉,所以就筛了另一个(非Cas)突变abp1-TD1。乖乖,也没有表型,但是同样无
法证明abp1-TD1影响了其它基因。反正,两种可能都有:以前的结果被他们认为是off-
target造成,别人也可以说,你们现在的结果也没法排除这个可能性,那发出来干嘛?
等以后第三方再来“纠正”?就为了数文章数?本来,他们吧 abp1-c1 和abp1-TD1杂
交的F1 表型验证一下,对于排除可能的off-target也稍微更有说服力一些(如果这些
影响是隐性的)。
--验证负结果跟正结果不一样。至少他们证明了基因不表达(我对此存疑),但植物
没有表型。off target导致负负得正的机会有多大呢?他们至少做了abp1-c1跟WT回交
clear background。我赞同你的观点,他们确实应该做几个complement,abp1-c1Xabp1
-TD1是一个,另一是cross最早的那个embry... 阅读全帖
m*******3
发帖数: 25
24
刘春明在JIPB上发表的对APB1的commentary
http://www.jipb.net/pubsoft/content/2/10.1111/jipb.12339.pdf
Science is a global community enterprise. Collectively, we contribute to
building the
knowledge tower by using bricks and mortar that should be strong, solid, and
long
lasting. A brick with defects may lead this tower, or a part there of, to
collapse. When
that happens, the community suffers, laying waste countless dedicated hours
of work,
especially by students and postdoctoral scholars. This is the reason... 阅读全帖
w***r
发帖数: 709
25
"Super p53" mice exhibit enhanced DNA damage response, are tumor resistant
and
age normally.
García-Cao I(1), García-Cao M, Martín-Caballero J, Criado LM, Klatt P,
Flores JM,
Weill JC, Blasco MA, Serrano M.
Author information:
(1)Spanish National Center of Biotechnology, Department of Immunology and
Oncology, Campus de Cantoblanco, Madrid E-28049, Spain.
The tumor suppressor p53 is critical in preventing cancer due to its ability
to
trigger proliferation arrest and cell death upon the occurrence... 阅读全帖
n***y
发帖数: 114
26
一个allele利用另一个allele作为修复的模板,两个alleles切割和修复不是同时发生
的,一前一后
。可以参考我以前发的帖子,MCR。
f********e
发帖数: 15
27
来自主题: Biology版 - CRISPR 序列分析问题请教
我的情况就是有些复杂啊。三个allele……而且目前在突变体里从没有看到过WT,只要
有突变就是所有allele一起突变。唉,如果事情像你说的那样我也就自己读了啊。 想
想三个allele的TOPO clone 就头疼,纯体力劳动...
c*********r
发帖数: 1312
28
来自主题: Biology版 - Heng Li长得就像个天才码农啊
多谢大牛给建议!
因为要用到一个软件HyLiTEhttps://hylite.sourceforge.io/做杂合体中的Allele-
specific expression,类似相当于人里边检查小孩基因组里来自父亲和来自母亲的等
位基因分别的表达水平,只不过我的实验里是用的来自两个不同物种的父亲和母亲以及
他们的杂交后代,在杂交后代里检查来自两个物种的基因的各自表达水平,从而研究基
因调控。这两个物种种内的突变就有4-5% (Coding sequence低一些,Stampy map结果
显示整体平均在1.7%-3.4%之间,个别基因肯定会超出这个范围),种间的突变更高,用
stampy map结果显示整体平均的variation比例在7%左右。第一步怎么mapping是个很头
疼的问题。
HyLiTE可以使用一个亲本的genome/transcriptome做reference,自动分析allele-
specific expression,比较省心。默认的是用bowtie,但是bowtie最大的突变率好像
是5%(1 mismatch per 20 bp seed?)。所以我... 阅读全帖
M*****e
发帖数: 501
29
大侠的生物要加强啊,呵呵.
文章只说了allele的百分比,
没有提到任何这个allele比另外allele的优越性.
还有,那个 smart gene的说法也不确切,
只能说这个基因和大脑发育有关,
到底怎么个关系,没有什么定论的,
当然也不可能有定论,智力这么复杂的东西,
岂是一两个gene能决定的?
d****y
发帖数: 2180
30
来自主题: MedicalCareer版 - 问医学同仁们一个问题
看了一下文章的abstract, 结果看来基本上都是clopidogrel比placebo要好。
看到这一段,‘P=0.02 for interaction‘。 看来clopidogrel加上gain-of-function
allele疗效就是1+1〉2了。
" In contrast, gain-of-function carriers derived more benefit from
clopidogrel treatment as compared with placebo than did noncarriers
(rate of primary outcome among carriers, 7.7% vs. 13.0%; hazard ratio,
0.55; 95% CI, 0.42 to 0.73; rate among noncarriers, 10.0% vs. 12.2%;
hazard ratio, 0.85; 95% CI, 0.68 to 1.05; P=0.02 for interaction). "

clopidogrel
的临床表现,可见的确没有... 阅读全帖
m*n
发帖数: 695
31
非常抱歉,我刚刚看到您的回复。 好久没人回我的问题, 我以为没人理, 就没再跟
踪。
非常感谢您的指点! 谢谢!!!
我定义SNP 的 三个 genotype 为1,2,3, 均为nominal ,按您说的,如果不定义哑变
量, spss 也是把这个分类变量当作连续变量来分析?
那SNP分析时, 我要不要做哑变量呢? 或是两种方法都做, 分别解释allelic
effect 和genotypic effect?
楼下还有”石头”前辈说的additive model, 要不要设哑变量?additive model 解释
的是 allelic effect 还是 genotypic effect?
SNP 和统计我都是新手, 烦请您再点拨点拨。

allelic
H**********f
发帖数: 2978
32
nominal应该就是categorical,所以你做的应该就是2df genotypic test。之后应该以
频率比较高的那个genotype比如AA作为reference,AG和GG弄成2个哑变量做回归,这样
可以看AG和GG各自对应AA的odds ratio,就能看出SNP效应的模式了。
应该也做一下(allelic) additive model,一般的复杂性状(疾病)相关SNP都比较
符合这个模型。把SNP当成连续变量,AA,AG,GG取值0,1,2,没有哑变量。这个模型可
以看allele G相对于allele A的odds ratio。
以上做完之后如果发现有明显的显隐性,可以用显隐性模型,上面石头提到了
T**********e
发帖数: 29576
33

这是正经发了paper的。
Tibetans carry a high proportion of an allele that improves oxygen transport
. The beneficial allele is also found in the extinct Denisovan genome,
suggesting that it arose in them and entered the modern human population by
hybridization.
http://www.nature.com/ncomms/2014/140210/ncomms4281/full/ncomms
g******l
发帖数: 5103
34
Testing the IQ of those with and without new ASPM allele has shown no
difference in average IQ, providing no evidence to support the notion that
the gene increases intelligence.
"the gene",不是"all genes"
原文的意思是这个new ASPM allele基因对智商没影响,不是所有基因都没影响。智商
不是基因决定的难道是吃出来的?
W******i
发帖数: 2001
35
Does leadership run in your family? According to a recent study from Kansas
State University, that might just be the case. The team found that a certain
dopamine transporter gene can have both positive and negative effects on
leadership in the workplace. So depending on whether or not you inherited it
may give insight into if you’re likely to rise high in business, Medical
Daily reports.
The allele is known as DAT1, and according to the study, now published The
Leadership Quaterly, inheriting it... 阅读全帖
X****i
发帖数: 1877
36
来自主题: Military版 - I think Mexico is a lot richer than China

人种杂交过度,多数身上都有有害的基因Alleles。
但由于基因不纯,要排除有害的Alleles变困难。
对米疣的GMO基因武器和有害添加物无知而大量食用。

发帖数: 1
37
来自主题: Military版 - 汉人50%都是OCA2携带者
这图能说明啥?非洲人跟白人一个频率。
你找的这个维基百科上说的很清楚:The His615Arg allele of OCA2
is involved in the light skin tone and the derived allele is restricted to
East Asia with high frequencies, with highest frequencies in Eastern East
Asia (49-63%), midrange frequencies in Southeast Asia, and the lowest
frequencies in Western China and some Eastern European populations
关键词:restricted
说明东亚人的浅肤色基因是独立形成的,跟白人没半毛钱关系

发帖数: 1
38
谢谢你这位老师。。。
我对大脑的研究还有学习记忆,非常感兴趣,我刚刚看了一下载要。。你可以不可以把
pdf 发我信箱,我在阳光明媚的早秋读读article不要太惬意。。。我的信箱是:
[email protected]
这个文章是2007年发的,听说,她2006年就回国了???因为自2006年就没有她的消息
。。。2000-2006,6年博士,差不多就是这个时间。我们实验室的3个师兄都是6-7年才
拿到phd.我2009年生病了。。所以,她2007年发的文章,我不可能会读不懂的。。如果
我读不懂,说明,我的大脑有问题了。。。
【Moreover, the effect of the C957T genotype was strengthened when
interaction with the COMT Val158Met polymorphism was included in the
analysis.】
我想从全文来看一下,他这句话是怎么得来的。。C957T genotype(polymorphism)的指
标?这个strengthen怎么量化来证明还是用老鼠的实验来... 阅读全帖
j*****u
发帖数: 1133
39
来自主题: JobHunting版 - Facebook Phone Inteview + 流程请教
just wrote a non-recursive subset function in C#
static IList> GetSubsets(ISet set)
{
if (set == null)
throw new ArgumentNullException("set");
List> list = new List>();
var allElements = set.ToArray();
for (int i = 0; i < (1 << set.Count); ++i)
{
var subset = new HashSet();
int mask = i;
int index = 0;
while (mask > 0)
{
if ((mask & 0x1) != 0)
subset.Add... 阅读全帖
j*****u
发帖数: 1133
40
来自主题: JobHunting版 - Facebook Phone Inteview + 流程请教
just wrote a non-recursive subset function in C#
static IList> GetSubsets(ISet set)
{
if (set == null)
throw new ArgumentNullException("set");
List> list = new List>();
var allElements = set.ToArray();
for (int i = 0; i < (1 << set.Count); ++i)
{
var subset = new HashSet();
int mask = i;
int index = 0;
while (mask > 0)
{
if ((mask & 0x1) != 0)
subset.Add... 阅读全帖
t**i
发帖数: 688
41
重新整理一下:
Assuming all the facts were true;
Assume this phenotype is Mendelian and determined by an autosomal single
locus.
Assuming HWE.
Denote p = population allele frequency of Double-eyelids, q = 1 - p =
population allele frequency of single eyelid.
Then we have
Pr(Mother is hybrid) = 1;
Pr(GaoShuaiFu is pure recessive) = 1;
Pr(Father is hybrid) = 2pq, Pr(Father is pure Double-eyelid) = p*p
Then Pr(kid is Single-eyelid | Father is hybrid) = 1/4
Pr(kid is Single-eyelid | Father is pure Double)... 阅读全帖
D*****r
发帖数: 6791
42
来自主题: TrustInJesus版 - HapMap人类基因组单体型图计划
http://en.wikipedia.org/wiki/International_HapMap_Project
HapMap计划,目的是描绘人类基因多样性分布规律,研究人类基因的不同变型对人类健
康、疾病和适应能力的影响。
这个项目成果发表在《自然》等顶级科学杂志上,比如这篇2007年的:
Genome-wide detection and characterization of positive selection in human
populations.
http://hapmap.ncbi.nlm.nih.gov/downloads/presentations/Sabeti20
Sabeti, P.C., Varilly, P., Fry, B., Lohmueller, J., Hostetter, E., Cotsapas,
C., Xie, X., Byrne, E.H., McCarroll, S.A., Gaudet, R., Schaffner, S.F.,
Lander, E.S., and The International HapMap Consortiu... 阅读全帖
D*a
发帖数: 6830
43
提供2篇references
Cre-mediated germline mosaicism: a new transgenic mouse for the selective
removal of residual markers from tri-lox conditional alleles.
Leneuve P, Colnot S, Hamard G, Francis F, Niwa-Kawakita M, Giovannini M,
Holzenberger M.
Nucleic Acids Res. 2003 Mar 1;31(5):e21.
36.
Cre-mediated germline mosaicism: a method allowing rapid generation of
several alleles of a target gene.
Holzenberger M, Lenzner C, Leneuve P, Zaoui R, Hamard G, Vaulont S, Bouc YL.
Nucleic Acids Res. 2000 Nov 1;28(
a***r
发帖数: 420
44
比较急,有用的帮助包子谢~!
我有一堆SNP,除了想知道它们的alleles外,还想具体一点知道他们的minor allele(如果有MAF就更好了)
形式最好是可以massive query的,比如一个file或者TextEntry一次输入1000+个SNP,获得表格形式的返回信息
望版上达人指教,谢谢:)
y****2
发帖数: 65
45
来自主题: Biology版 - 吵起来了,关于GWAS
我的理解
我们知道定位QTL是不准确的。证明一个QTL存在或是不存在是困难的。
在一个不是非常巨大的群体里估计出来的QTl效应是有偏差的。
为啥不放弃QTL的模型,而是仅仅将所有的markers放在一个模型中,来给每个genotype
一个值的估计?--把所有的marker(SNP在这里)同时放在一个模型中,预测每个
marker allele的对于疾病的效应。所有marker alleles的值总和就是这个genotype的
效应。
总之,我们可能不知道QTL是啥,但是我们可以更加准确地预测每个genotype的值。黑
箱操作。需要对于每个群体都单独分析,因为LD不consistent across populations.LD
啊LD,population structure,genetic architecture这些都是association analysis
极端重要的问题。
两个前提,good phenotyping; 第二 if marker –target gene LD is consistent
across populations.
y****2
发帖数: 65
46
来自主题: Biology版 - 吵起来了,关于GWAS
Genome-wide selection model (mixed model):
Y=u+Xg+e
X includes all markers
g estimates effects of all markers simultaneously.
Get BLUPs for each MARKER ALLELE!
value of a genotype is sum of its marker allele BLUPs
就是一个很简单的模型。。。
y**s
发帖数: 6809
47
来自主题: Biology版 - 吵起来了,关于GWAS
弱弱的问啊,能达到那个计算能力吗?
你最后算不出来还是得假定sparse matrix啊
这不就又回到qtl了

我的理解
我们知道定位QTL是不准确的。证明一个QTL存在或是不存在是困难的。
在一个不是非常巨大的群体里估计出来的QTl效应是有偏差的。
为啥不放弃QTL的模型,而是仅仅将所有的markers放在一个模型中,来给每个genotype
一个值的估计?--把所有的marker(SNP在这里)同时放在一个模型中,预测每个
marker allele的对于疾病的效应。所有marker alleles的值总和就是这个genotype的
效应。
总之,我们可能不知道QTL是啥,但是我们可以更加准确地预测每个genotype的值。黑
箱操作。需要对于每个群体都单独分析,因为LD不consistent across populations.LD
啊LD,population structure,genetic architecture这些都是association analysis
极端重要的问题。
两个前提,good phenotyping; 第二 if marker –target
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