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全部话题 - 话题: indels
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t**o
发帖数: 19
1
【 以下文字转载自 NCAA 讨论区 】
发信人: cellneuron (cell2), 信区: NCAA
标 题: 市长也许永远不会吸取教训, 下一个学校会是谁?
发信站: BBS 未名空间站 (Wed Dec 5 01:45:31 2018, 美东)
从鳄鱼到八盖, 市长都在泥潭里灰溜溜的离开, 留下的是一片骂名。他的蛛网膜囊肿
在30年前就发现了并治疗, 对他的生命其实没有太大威胁。当然市长每次离开都用不
同的病。
他显然不会就这样退休, 这维持不了他现在的生活水平。 在家呆一年风平浪静后肯定
复出, 就不知道是哪个学校要倒霉了。
转一篇文章,市长也许是个老好人, 但肯定不是一个好统帅。
Urban Meyer Leaves Another Program Disgraced—and It Won't Be His Last
Take a deep breath, everyone. We'll get through this shocking revelation,
this can't-be-true moment, together.
Urban Meyer has... 阅读全帖
B*********e
发帖数: 363
2
来自主题: Seattle版 - 西雅图downtown一日游
· Ride the Ducks: it’s a 90 minutes city tour with one hour on land and
half an hour in the water (passengers will not get wet, though). You have to
get there 30 minutes prior, so it’s totally around 2 hours.
http://www.ridetheducksofseattle.com/rides.htm
· Lunch at Space Needle’s Skycity Restaurant, with fr...ee admission to
Space Needle to have a bird’s eye view of Seattle.
http://www.spaceneedle.com/skycity-restaurant/
· 20 minutes Seattle Scenic Flight Tour by Kenmore Air (the price tag is $... 阅读全帖
z**n
发帖数: 22303
3
http://sacurrent.com/news/elisa-chan-resigns-from-city-council-
看到最近休斯敦的血案深感痛心,越发认识到华人参政的重要性。圣安东尼奥选区颇有
几位有分量的亚裔政治家,Elisa Chan来自台湾,讲国语,工程师背景。有投票权的请
关注。
Elisa Chan Resigns from City Council to Seek Texas Senate Seat
Photo: Couretsy photo, License: N/A
Farewell, Elisa Chan?
By Mary Tuma
Published: October 23, 2013
One of the most controversial San Antonio City Council members in recent
history stepped off the dais last Friday, but not for reasons that would
appease her fiercest critics. District 9’... 阅读全帖
i*********5
发帖数: 19210
4
by Beverley D'Cruz Oct 6, 2011
http://getinspired.lifestyle.sympatico.ca/?mid=4
http://www.manageyourshapeblog.com/.a/6a00e54f9153e08833014e8c1
It’s been five days and over 200km of racing in the sweltering heat of the
Sahara Desert since our colleagues Gavin Lucas (pictured above wearing bib
number 84)and Mariska Kempers left for the 250km Sahara Race in Egypt last
week.
Tomorrow, the last leg of this journey draws their year-long physical and
mental training to a close. Gavin decided to take... 阅读全帖
s***s
发帖数: 4329
5
来自主题: Soccer版 - Matri goal
Juventus snap up Matri
February 1, 2011
* Email
* Print
By ESPNsoccernet staff
Juventus have confirmed the signing of Cagliari striker Alessandro Matri on
loan with a view to a permanent €18 million transfer in the summer.
Alessandro Matri
GettyImagesAlessandro Matri has scored 11 Serie A goals in 19 starts this
season
• Real rejected Juve bid for Benzema
• Blog: Juve wave goodbye to silverware
• Juve striker Amauri returns to Parma
• Forum: Window winners a... 阅读全帖
d**y
发帖数: 18174
6
来自主题: Swimming版 - 索尼退役
REBECCA SONI ANNOUNCES RETIREMENT
Digg Image Reddit Image Del.icio.us Image StumbleUpon Image RSS Feed
Image Mail Image Print Image
1/30/2014
Rebecca Soni broke the world record in the semifinals of the 200m breast. (
Small)Six-time Olympic medalist Rebecca Soni announced her retirement from
professional swimming today.
Since making her Olympic debut at the Beijing 2008 Olympic Games, Soni has
been an integral member of USA Swimming. The 26-year-old has won three gold
and three silver O... 阅读全帖
t***y
发帖数: 182
7
来自主题: astrology版 - 苏珊米勒2012年3月巨蟹运势 (zz)
source:
http://www.astrologyzone.com/forecasts/monthly/cancer_full.php
Cancer Horoscope for March 2012
By Susan Miller
As a Cancer, you are a steadfast person, and always careful to fulfill your
responsibilities to others. Somewhere on the bottom of your list, assuming
you can find the time, you indulge in a little leisure fun. Over the past
year or two, those hours of enjoyment have become increasingly limited. The
good news is that in the first half of March, the universe will make a
correctio... 阅读全帖
a*********3
发帖数: 660
8
Everyone understands the nature of war, we also understand that victory
depends on the cards that we have been dealt. Some when faced with a bloody
battle simply give in, but for some surrender is unacceptable, even though
they know it would be a fight to the death.
每个人都清楚战争的本性,我们也知道胜利取决于我们打出的那些牌。有些人在面
对血战会从容放弃;但是对某些人来说投降是无法接受的,尽管他们清楚面前的是决一
死战。
The world is filled with unlikely friendships. How did they begin, with one
person desperately in need and another willing to lend a helping hand. When
... 阅读全帖
B******Z
发帖数: 9193
9
这片里面女主Aaliyah是所有喷漆李配戏的女主里面名气最大的,可惜飞机失事早死,
身后评价是“Aaliyah has been credited for helping redefine R&B and hip hop
in the 1990s, "leaving an indelible imprint on the music industry as a whole
."”
Romeo Must Die的主题曲帮她拿到格莱美Female R&B Vocalist提名,喷气李还华丽地
在mv里面出境
d********f
发帖数: 43471
10
【 以下文字转载自 Biology 讨论区 】
发信人: mahmet (里约大冒险), 信区: Biology
标 题: 知识分子独家专访:面对质疑的韩春雨
发信站: BBS 未名空间站 (Mon Oct 17 21:05:25 2016, 美东)
独家专访:面对质疑的韩春雨
原创2016-10-18 陈晓雪、李晓明 知识分子
►韩春雨任教的河北科技大学门口。摄影:陈晓雪
内文提要:
独家专访:面对质疑的韩春雨
韩春雨NgAgo论文可重复性争议考验科学界
编者按:
5月初,《知识分子》以国际科学媒体的标准,第一时间报道依据国际科学同行
评议的学术刊物上发表的韩春雨论文以及当时多位科学家评论,并说明其是发展了荷兰
科学家的工作。此后,国内媒体和单位纷纷跟进,因为没有新的工作进展,《知识分子
》未继续报道。从网上开始有声音质疑韩春雨文章结果,《知识分子》一直保持追踪国
内外学术界最新的动态,但不依据私下匿名来源为主作报道,直到13位中国科学家公开
实名发言后,《知识分子》才有可以较为完整、公开的事实可以报道。
NgAgo实验的可重复性争议历经数月之... 阅读全帖
H********g
发帖数: 43926
11
来自主题: Joke版 - 萨缪尔 约翰逊 语录
Not PC-in Praise of a Great Englishman
http://anatheimp.blogspot.ca/2009/11/not-pc-in-praise-of-great-englishman.html
第一本权威英语字典(https://en.wikipedia.org/wiki/A_Dictionary_of_the_
English_Language)的编写人,萨缪尔约翰逊
所有引用的萨缪尔约翰逊言论用【标出】
Lovers of the English language, or words in general, will be mindful that
this year (2009) marks the three-hundredth anniversary of the birth of
Doctor Samuel Johnson, the compiler of our first dictionary. His namesake,
the equally larger than life Boris Johnson marked the... 阅读全帖
l***y
发帖数: 791
12
来自主题: Poetry版 - park song =)
You will remember ... by pablo neruda
You will remember that leaping stream
where sweet aromas rose and trembled,
and sometimes a bird, wearing water
and slowness, its winter feathers.
You will remember those gifts from the earth:
indelible scents, gold clay,
weeds in the thicket and crazy roots,
magical thorns like swords.
You'll remember the bouquet you picked,
shadows and silent water,
bouquet like a foam-covered stone.
That time was like never, and like always.
So we go there, where nothing
c****t
发帖数: 19049
13
来自主题: SciFiction版 - 云图 英文版
THE PACIFIC JOURNAL OF ADAM EWING
Thursday, 7th November—
Beyond the Indian hamlet, upon a forlorn strand, I happened on a trail of
recent footprints.
Through rotting kelp, sea cocoa-nuts & bamboo, the tracks led me to their
maker, a White man,
his trow-zers & Pea-jacket rolled up, sporting a kempt beard & an outsized
Beaver, shoveling
& sifting the cindery sand with a teaspoon so intently that he noticed me
only after I had hailed
him from ten yards away. Thus it was, I made the acquaintance of... 阅读全帖
n*********0
发帖数: 925
14
来自主题: TrustInJesus版 - Oct 12 信心的支票簿 Faith's check book
http://www.glorypress.com/devotional/FaithAndLifeOneYearBook.asp?bid=3
恩典与记号
经文: 「耶和华──你上帝必将你心里和你后裔心里的污秽除掉,好叫你尽心尽性爱耶
和华──你的上帝,使你可以存活。」(申命记卅︰6 )
这里我们看到真正的割礼;只有主自己可以除去我们心中的污秽,好叫我们尽
心尽性爱主我的上帝。这件事本身就是一个奇迹,若非圣灵动工,是无法做到这地步;
若人未能达到这般境界,我们内心便不得满足。
注意,这割礼是在人的内心,而非肉体。这是恩典之约最基本的标记。对上帝
的爱慕是被拣选的族类应有的记号;有了这印记,我们的名字会被列在生命册上。我们
要留意,我们对上帝的爱,不在于遵守外在仪文的规范,而是内心圣灵所施行的割礼。
这带出来的结果是什么﹖ 「使你可以存活」,若我们体贴肉体,我们就死亡
;若我们攻克己身,叫身服我,我就得着生命与平安。若我们思念上面的事,就得以存
活。喔,耶和华,我主我的上帝,愿祢浩大的恩典,不断造就我内在的生命,让祢成为
我一生完全奉献的对象... 阅读全帖
l**********t
发帖数: 5754
15
来自主题: TrustInJesus版 - 【福音派版本】罗马书1:22-32

24. Wherefore God also gave them up to uncleanness through the lusts of
their own hearts, to dishonour their own bodies between themselves:
"God therefore gave them up, etc. As impiety is a hidden evil, lest they
should still find an evasion, he shows, by a more palpable demonstration,
that, they cannot escape, but must be held fast by a just condemnation,
since such fruits have followed this impiety as cannot be viewed otherwise
than manifest evidences of the Lord’s wrath. As the Lord’s wrath ... 阅读全帖
l*****a
发帖数: 38403
16
来自主题: TrustInJesus版 - 这对夫妇能得救进天国吗?
这只能说明人家博爱不狭隘
I am unable to identify with orthodox Christianity. I must tell you in all
humility that Hinduism, as I know it, entirely satisfies my soul, fills my
whole being, and I find solace in the Bhagavad Gita and the Upanishads that
I miss even in the Sermon on the Mount....I must confess to you that when
doubts haunt me, when disappointments stare me in the face, and when I see
not one ray of light on the horizon I turn to the Bhagavad Gita, and find a
verse to comfort me; and I immediate... 阅读全帖
M***D
发帖数: 117
17
本人国内名校本科毕业,
美国癌症细胞生物学博士,癌症细胞生物学的各种实验技术都熟悉
美国计算机硕士,
擅长python编程,
懂Java 和 R 编程
懂常规数据库
对于二代测序的常规流程熟悉并有实际经验。
比如 alignment, assembly, SNP/indel callingk.
由于没有绿卡,
求大学,研究所,医院的工作,
二代数据分析最好,
实验室,测序中心, 数据中心都可以
也可以做部分癌症生物学或者细胞生物学的实验, 但不能超过总时间的一半.
工资要求5万以上.
恳求大家帮忙.
f**********e
发帖数: 1994
18
界面是 python. 如果是 indel 很少,>50% seq id 的 homologue, 20内行搞定。
用它 automodel 的模块就行了。
n******7
发帖数: 12463
19
假设你是solexa,拿到fastq,有时候可能要预处理,trim一下,然后用bowtie/BWA
align到reference genome,然后找个工具call SNP/indel什么的,据说现在最好的
caller是dindel
p*******s
发帖数: 516
20
"图像识别,把图像转换成序列" =》 sequencing
align => mapping
basecalling => SNV & Indel detection
w****m
发帖数: 38
21
请问clc的SNP/INDEL CALLING怎么样啊?和OPEN SOURCE的比较而言。。
谢谢!
w****m
发帖数: 38
22
请问clc的SNP/INDEL CALLING怎么样啊?和OPEN SOURCE的比较而言。。
谢谢!
n******7
发帖数: 12463
23
事情是这样,我们用RT-PCR克隆了一些gene的transcript (CDS only),然后丢给454
测了,然后把其中的一些克隆又拿去做了Y2H。我发现有好几个基因都有个特别的
transcript克隆出来。它们的特点是:
1. 超级短。往往gene有七八个exon,这个transcript就在取了第一个和最后一个exon
的各一部分了事。一共也就200个nt左右
2. READS coverage很低。我们平均的coverage在60X+,这几个小东西也就1-2X,因为
也很短,也就是说,就一两条reads支持。很奇怪,因为我们是用clone测序,所以这个
跟表达量也没关系。后续的Sanger data也确认了这些短序列
3. 不是canonical splicing site。把这些序列align的genome的话,都是覆盖最5'和
最3'端的,之间是一个巨大的gap。如果gap是spliced intron的话,对应的splicing
site不是GU..AG。
4. interaction partner往往很多。比如有个transcript,有15个partner筛出... 阅读全帖
n******7
发帖数: 12463
24
一直跟一个组合作,对方老板是领域大牛。我们分析对方的产生的数据,一开始用方案
A,也是最容易想到的方案。后来做了一点分析,开会的时候对方老板说,有一些数据
不可靠,不能用。于是就去掉了一些数据来分析,可以算方案B吧。
前段时间开始跟另外一个组合作,也要处理数据。我就按方案B处理了给他们。他们老
大说我们还想再要点数据,其实就是方案A里面被去除的。我早上跟在外面开会+度假的
老板联系,讨论了一会儿,还是说用方案B,让我跟他们解释。
于是下午花了很多时间,N封往来信件,跟他们老大说那些数据不可靠,虽然我们也很
想用,但是可能产生的结果没有意义。但是他们老大坚持想要。然后我说我跟老板在讨
论下吧。我想合作组的老大肯定很不爽。
结果过段时间老板从iphone上回了个email,说,我没看你们往来的邮件,但是我觉得
应该这么这么做。我一读就怒了,这tm不就是方案A吗?
鉴于老板经常忘记自己说啥了,我赶忙单独回复一封,说,可能我搞错的,我做的方案
B,你说的是A,我是不是要用方案A来?她回复:不知道你在说什么,还不明白的话,
去问大姐,今天我跟她电话里面说清楚了。
过一会儿, 对方老板回信:对啊,... 阅读全帖
n********k
发帖数: 2818
25
What are ur general thoughts about AS field? ever talked to Fu about it...I
was hoping he is gonna do something with AS-NGS thing but it has been a long
wait:))
As for the LZ's problems, I were thinking:
1. the proteomic domain is presumably very much incompleted and perhaps not
as reliable either...
2. why Indel has to be eliminated, I saw potentially they could be very
interested unless generated by the procedures...
3. An idiot on the bioinformatic side, if it is pretty manageable, I was
won... 阅读全帖
n******7
发帖数: 12463
26

I
long
你说Xiangdong Fu? 我跟他lab很熟,不过他们似乎现在关注的是RNA-Protein的
interaction
not
不错,这样发挥空间就大一些
根据我的估计大概1/3的indel在5‘ end primer region,1/3在3‘ end primer
region. 应该不是biological meaningful的东西。 并且,我们的sample没有相关的表
型,默认是wild-type的
因为我们是做mid-throughput analysis,而且想尽快写文章。boss没有任何经验和
confidence, 一天主意变几次。。。
u*********1
发帖数: 2518
27
来自主题: Biology版 - 问个基因组的问题
Actually the reference genome comes from mixed samples of different
individuals of different populations.
So it's just the "reference", it's not even the major allele. The SNP
identified by comparing sequences of case with reference is "alternative
allele", not "minor allele". For a long time I used to think bases in
reference genome are "major allele", which is true most of time, but not
definitely true.
Why we need "reference genome" is because it's still challenging to directly
sequence the w... 阅读全帖
l**********1
发帖数: 5204
28
来自主题: Biology版 - What's called somatic mutation?
LZ pls try go to
//www.sanger.ac.uk/genetics/CGP/cosmic/
or Cell article:
by
Nik-Zainal S et al. and Stratton MR (2012)
Mutational processes molding the genomes of 21 breast cancers.
Cell. 149: 979-93.
Abstract
All cancers carry somatic mutations. The patterns of mutation in cancer
genomes reflect the DNA damage and repair processes to which cancer cells
and their precursors have been exposed. To explore these mechanisms further,
we generated catalogs of somatic mutation from 21 breast cancer... 阅读全帖
u*********1
发帖数: 2518
29
这个,还是少说点废话空话大话。。。
说个对自己研究最实在的:
我分析exome data,希望寻找可能的disease-causing mutation;目前大家主要关注的
还是exon里面的nonsynonymous mutation,或者frameshift mut (主要还是SNP,然后
加上少数indel);而且还要通过1000G的筛选找到rare mutation,还要根据疾病的模
型进一步筛选。所以筛选到最后,反正我自己的project就是找不到。
那么我就想问,是不是这个ENCODE出来了以后,等于说更多的genome被annotate了?那
我们的寻找disease mutation的眼光就不用只放在exon上了?。。。可能致病位点就是
在那些regulatory sites上呢。。。当然这样就不能仅限于exome测序了。。。。。但
到底多少疾病是因为regulatory region的SNP导致的呢?我看nature genetics上很多
遗传病或者遗传相关的疾病还是exome的突变导致的
u*********1
发帖数: 2518
30
还需要知道那个SNP position 位点是不是 在我的新数据里面也是SNP
Don't quite understand. You mean "your new database"(我的新数据) is not SNP-
calling file? Then first use GATK/Samtools to call SNP/indel from "your new
database", then filter against your old database.
If you have no experience using GATK, and in a hurry to get results, I
strongly suggest using Samtools, which is basically just one bash command,
while GATK is monsterous algorithm. Also newest version of GATK is coming
out and all those old scripts may now be ... 阅读全帖
n******7
发帖数: 12463
31
我没做过复杂的SNP分析,不负责任地随便说说
你数据A应该是SAM格式的alignment数据吧?不建议你直接一个read一个read的来分析
variance site,因为这个完全可能是sequencing/alignment的错误造成的。最直接可
靠的方法是用一些variance caller,比如samtools,先call出snp/indel来,然后在比
较。这个比较可以用一些标准工具,比如楼上提到的;或者自己写个简单的脚本。

略)
a**m
发帖数: 184
32
来自主题: Biology版 - 贡献一个SNP/Indel calling pipeline
现在call snp已经很成熟了吧。光看你列这些软件就知道了~

,C
u*********1
发帖数: 2518
33
来自主题: Biology版 - 贡献一个SNP/Indel calling pipeline
很感激。我赶紧去对比下你的GATK pipeline和我自己的
但问题是,貌似GATK的website更新了,貌似你的pipeline也是V3的吧。。现在都V4了

,C
p**********e
发帖数: 20
34
来自主题: Biology版 - 贡献一个SNP/Indel calling pipeline
好东西,顶一下
i***r
发帖数: 1035
35
来自主题: Biology版 - 贡献一个SNP/Indel calling pipeline
谢谢,祝你一切顺利!
我这种情况怎么搞(目前还是没有弄明白)
有2个原始文件,一个是发飙了的SNPs数据,大概70个不同human poupulations,是一
个bed文件,结构是这样(右边省略了若干column)
chr1 41217 41218 snp 2 + T A dbsnp.108:
rs3863625 NN
chr1 41255 41256 snp 3 + C T dbsnp.111:
rs4543737 NN
chr1 41980 41981 snp 4 + A G dbsnp.86:
rs806721
姑且叫A.bed
另一个是个bam文件,别的地方下载的,是另一个human population数据,转成sam文件
之后(为了好看把SEQ和QUAL拿掉了):
all-hg18_1 0 chr1 39 10... 阅读全帖
u**********d
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来自主题: Biology版 - 贡献一个SNP/Indel calling pipeline
mark

,C
a**m
发帖数: 184
37
来自主题: Biology版 - 贡献一个SNP/Indel calling pipeline
现在call snp已经很成熟了吧。光看你列这些软件就知道了~

,C
u*********1
发帖数: 2518
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来自主题: Biology版 - 贡献一个SNP/Indel calling pipeline
很感激。我赶紧去对比下你的GATK pipeline和我自己的
但问题是,貌似GATK的website更新了,貌似你的pipeline也是V3的吧。。现在都V4了

,C
p**********e
发帖数: 20
39
来自主题: Biology版 - 贡献一个SNP/Indel calling pipeline
好东西,顶一下
i***r
发帖数: 1035
40
来自主题: Biology版 - 贡献一个SNP/Indel calling pipeline
谢谢,祝你一切顺利!
我这种情况怎么搞(目前还是没有弄明白)
有2个原始文件,一个是发飙了的SNPs数据,大概70个不同human poupulations,是一
个bed文件,结构是这样(右边省略了若干column)
chr1 41217 41218 snp 2 + T A dbsnp.108:
rs3863625 NN
chr1 41255 41256 snp 3 + C T dbsnp.111:
rs4543737 NN
chr1 41980 41981 snp 4 + A G dbsnp.86:
rs806721
姑且叫A.bed
另一个是个bam文件,别的地方下载的,是另一个human population数据,转成sam文件
之后(为了好看把SEQ和QUAL拿掉了):
all-hg18_1 0 chr1 39 10... 阅读全帖
u**********d
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来自主题: Biology版 - 贡献一个SNP/Indel calling pipeline
mark

,C
s******r
发帖数: 91
42
来自主题: Biology版 - 贡献一个SNP/Indel calling pipeline
请问有lz用过GATK最新的HaplotypeCaller么
GATK自己说这是他们最先进的variants caller
不过我试了下 发现很多genotyps都和我在IGV里看的矛盾

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x*****d
发帖数: 704
43
来自主题: Biology版 - 贡献一个SNP/Indel calling pipeline
我用的是Tophat1.4加freebayes。 GATK老是说我的reference有问题。
u*********1
发帖数: 2518
44
来自主题: Biology版 - 贡献一个SNP/Indel calling pipeline
你要确定你BWA产生bam file时候使用的ref,和你GATK command里的ref,是同一个
reference;GATK对这个要求很严,尤其不同版本的ref,比如g1k_37和hg19;g1k会包
含一些无法assembly的contig。总之ref里的chromosome的多少,排序都很重要,同时
要注意prefix比如“chr”;20和chr20是不一样的,GATK没办法识别的
x*****d
发帖数: 704
45
来自主题: Biology版 - 贡献一个SNP/Indel calling pipeline

多谢指点!我用的都是Tophat主页上面的hg19和mm9 reference。下次再试试。
x*****d
发帖数: 704
46
来自主题: Biology版 - 贡献一个SNP/Indel calling pipeline
楼主少了一步吧?
bwa aln -t 4 -f -I fastq>
bwa aln -t 4 -f -I fastq>

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g*****g
发帖数: 78
47
来自主题: Biology版 - 贡献一个SNP/Indel calling pipeline
For SNP calling, there is a better one came out recently:
http://www.nature.com/ncomms/journal/v3/n12/abs/ncomms2256.html
x*****d
发帖数: 704
48
来自主题: Biology版 - 贡献一个SNP/Indel calling pipeline

看了,这个流程要求pileup.问题是我的样品是100 million PE read. pileup后文件实
在太大了,没有GATK占的空间少.
n******7
发帖数: 12463
49
来自主题: Biology版 - 大家对NGS的发展如何看?
我觉得你说到点上了,应该M起来
“4.对基因组,genome biology本身的认识。其实纵然是whole-genome sequencing,我
看大部分的paper也就是先找找coding region/splicing的SNP/indel;或者说大家还是
gene-centric的。现在我们对基因组的认识还很不完善,且不说loci interaction,就
连最基本的每个loci是什么作用都不清楚。很多基因的功能都不知道,而且gene本身的
概念也在被扩充,不断有新的gene被发现,以及各种新型的什么miRNA gene啊,
linkRNAgene被发现。还有很多regulatory region比如被ENCODE给annotate出来。除了
非常明显的罕见的large deletion/duplication,或者一些repeat expansion,我们的
精力还是停留在missense mutation上,因为这个最好解释。而splicing site,或者
regulatory region有一个哪怕是罕见的A到T的突变,请问你能立刻给我解释下这个
rare SNP ... 阅读全帖
b****r
发帖数: 17995
50
来自主题: Biology版 - 请教neurogenomics职业规划
如果很多与疾病有关的variant都是近几代才新发的,SNP association study几乎不能
提供什么线索。当然,如果是有家系用于做定位那还是有用,这个算是常识吧我就忽略了
copy number就是copy gain copy loss了,indel也算是广义上的copy number吧
不一定要WGS做copy number啊,exome如果优化好了也可以做copy number,array更是
利于做copy number
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