White Sea View TShirt APC Discount Shopping Online SrWJcD8cYx

SKU863165776013096204542
White Sea View T-Shirt A.P.C. Discount Shopping Online SrWJcD8cYx
White Sea View T-Shirt A.P.C.
View Sale Online classic joggers Black Dolce amp; Gabbana Clearance Best Prices Largest Supplier Sale Online Newest Cheap Online Discount 100% Authentic OgKZBUCv7
2 Pack Trunks Blue Björn Borg The Cheapest Online eU0lYL9

Advertisement

.

share

Report
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

See all Hide authors and affiliations

21 Dec 2012: Vol. 338, Issue 6114, pp. 1619-1622 DOI: 10.1126/science.1227764
Brian J. O’Roak
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Laura Vives
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Wenqing Fu
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Jarrett D. Egertson
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Ian B. Stanaway
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Ian G. Phelps
Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA. Seattle Children’s Hospital, Seattle, WA 98105, USA.
Gemma Carvill
Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA. Seattle Children’s Hospital, Seattle, WA 98105, USA.
Akash Kumar
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Choli Lee
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Katy Ankenman
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Jeff Munson
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Joseph B. Hiatt
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Emily H. Turner
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Roie Levy
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Diana R. O’Day
Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA.
Niklas Krumm
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Bradley P. Coe
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Beth K. Martin
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Elhanan Borenstein
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Department of Computer Science and Engineering, University of Washington, Seattle, WA 98195, USA. Santa Fe Institute, Santa Fe, NM 87501, USA.
Deborah A. Nickerson
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Heather C. Mefford
Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA. Seattle Children’s Hospital, Seattle, WA 98105, USA.
Dan Doherty
Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA. Seattle Children’s Hospital, Seattle, WA 98105, USA.
Joshua M. Akey
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Raphael Bernier
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Evan E. Eichler
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Howard Hughes Medical Institute, Seattle, WA 98195, USA.
Jay Shendure
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.

You are currently viewing the abstract.

View Full Text
via AAAS login

AAAS login provides access to for AAAS members, and access to other journals in the family to users who have purchased individual subscriptions.

Register for free to read this article

As a service to the community, this article is available for free. Existing users log in.

Log in via OpenAthens.
Log in with your institution via Shibboleth.

Download and print this article for your personal scholarly, research, and educational use.

Buy a single issue of for just $15 USD.

Abstract

Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de novo mutations but few recurrently disrupted genes. We therefore developed a modified molecular inversion probe method enabling ultra-low-cost candidate gene resequencing in very large cohorts. To demonstrate the power of this approach, we captured and sequenced 44 candidate genes in 2446 ASD probands. We discovered 27 de novo events in 16 genes, 59% of which are predicted to truncate proteins or disrupt splicing. We estimate that recurrent disruptive mutations in six genes—, , , , , and —may contribute to 1% of sporadic ASDs. Our data support associations between specific genes and reciprocal subphenotypes (-macrocephaly and -microcephaly) and replicate the importance of a β-catenin–chromatin-remodeling network to ASD etiology.

Science

Vol 338, Issue 611421 December 2012

Factory Outlet Clearance Discount DUNGAREES Jumpsuits BAamp;SH Shopping Online Clearance eTzdl
Download Powerpoint
Print
Save to my folders
Sale For Nice Brussels DG underwired bikini Melissa Odabash Outlet Inexpensive hR1kKAxbc
Request Permissions
Calvin Klein Woman Lace Underwired Bra Cobalt Blue Size 34 B Calvin Klein Visit 2018 Cheap Sale Outlet View Discount Cost Cheap Sast ZUIxQ9gH7
Share
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

By Brian J. O’Roak , Laura Vives , Wenqing Fu , Jarrett D. Egertson , Ian B. Stanaway , Ian G. Phelps , Gemma Carvill , Akash Kumar , Choli Lee , Katy Ankenman , Jeff Munson , Joseph B. Hiatt , Emily H. Turner , Roie Levy , Diana R. O’Day , Niklas Krumm , Bradley P. Coe , Beth K. Martin , Elhanan Borenstein , Deborah A. Nickerson , Heather C. Mefford , Dan Doherty , Joshua M. Akey , Raphael Bernier , Evan E. Eichler , Jay Shendure

Older .doc files TOPWEAR Tops AM Buy Cheap Best Store To Get wliYKusMY

For older .doc files, you can save the document as HTML with Microsoft Word and then convert the resulting HTML file with calibre. When saving as HTML, be sure to use the “Save as Web Page, Filtered” option as this will produce clean HTML that will convert well. Note that Word produces really messy HTML, converting it can take a long time, so be patient. If you have a newer version of Word available, you can directly save it as docx as well.

Another alternative is to use the free OpenOffice. Open your .doc file in OpenOffice and save it in OpenOffice’s format .odt. calibre can directly convert .odt files.

TXT documents have no well defined way to specify formatting like bold, italics, etc, or document structure like paragraphs, headings, sections and so on, but there are a variety of conventions commonly used. By default calibre attempts automatic detection of the correct formatting and markup based on those conventions.

TXT input supports a number of options to differentiate how paragraphs are detected.

Assumes one or more blank lines are a paragraph boundary:

Assumes that every line is a paragraph:

Assumes that every paragraph starts with an indent (either a tab or 2+ spaces). Paragraphs end when the next line that starts with an indent is reached:

PDF documents are one of the worst formats to convert from. They are a fixed page size and text placement format. Meaning, it is very difficult to determine where one paragraph ends and another begins. calibre will try to unwrap paragraphs using a configurable, Line Un-Wrapping Factor . This is a scale used to determine the length at which a line should be unwrapped. Valid values are a decimal between 0 and 1. The default is 0.45, just under the median line length. Lower this value to include more text in the unwrapping. Increase to include less. You can adjust this value in the conversion settings under PDF Input .

Also, they often have headers and footers as part of the document that will become included with the text. Use the Search and Replace panel to remove headers and footers to mitigate this issue. If the headers and footers are not removed from the text it can throw off the paragraph unwrapping. To learn how to use the header and footer removal options, read All about using regular expressions in calibre .

Some limitations of PDF input are:

To re-iterate PDF is a really, really bad format to use as input. If you absolutely must use PDF, then be prepared for an output ranging anywhere from decent to unusable, depending on the input PDF.

PDF is a really, really bad

A comic book collection is a .cbc file. A .cbc file is a ZIP file that contains other CBZ/CBR files. In addition the .cbc file must contain a simple text file called comics.txt, encoded in UTF-8. The comics.txt file must contain a list of the comics files inside the .cbc file, in the form filename:title, as shown below:

concurrence Meaning in the Cambridge English Dictionary Sports Socks Grey melange HEMA Outlet Best Wholesale Free Shipping Marketable Discount Visa Payment Free Shipping With Credit Card m8ilQ7ye4
Cambridge Dictionary

Log in

Back to home page

"concurrence" in English

concurrence noun 100% Authentic Cheap Online Womens Onlcannes Lace Top WVN Vest Only Free Shipping Exclusive aVHVHMl

Thesaurus: synonyms and related words

With Credit Card Online Outlet Low Price Fee Shipping Pants for Women On Sale Black Viscose 2017 8 Elisabetta Franchi Classic eTyMEf

See more results »

Examples from literature

Examples for 'concurrence'

These examples are from external sources. Click on the icon to tell us what you think.

Are we to believe that in all these instances all these steps were taken, all these operations embarked upon, with the full advice and of the expert advisers?
Hansard archive
Is abstention the equivalent of ?
Hansard archive
Also, is there not an inference that apparently, apart from that dissociation, he would have been involved in a ?
Hansard archive
My noble friend said very truly that there was something like a general of opinion that in itself this provision is an undesirable one.
Hansard archive
We should be asking them to give to something we had already gone into, and almost prejudged as regards the details of the management of it.
Hansard archive
There are, indeed, many decisions made in industry which would not be made without the of the employee representatives.
Hansard archive
Our present understanding is that such is not likely.
Hansard archive
They did not meet with the of the country at large.
Hansard archive
Each chamber of the legislature may expel a member with the of two-thirds of the membership of the house.
Wikipedia
The of other symptoms such as photophobia and nausea can help in determining the proper diagnosis.
Wikipedia
I am only compelled to insist upon this matter of general ecclesiastical .
Hansard archive
The new authorities will be unable, without my , to dismiss persons holding certain speci- fied posts or to reduce the remuneration of the persons holding those posts.
Hansard archive
I take it that with the congratulations goes the that the transitional period could last for a decade or more.
Hansard archive
The then raised an equity bar to the requested relief.
Wikipedia
No serious delay is involved, and " " is necessary for this reason.
Hansard archive

Translations of “concurrence”

贊同,同意, 一致, 同時發生…

Sign Up for Our Newsletter

Fields marked with an * are required

32 Old Slip, 24th Floor, New York, NY 10005

(212) 620-4230

Copyright ©2018 Foundation Center. All Rights Reserved. Privacy Policy Up To Date SWIMWEAR Bikinis bikini lovers Perfect Cheap Price Big Sale Cheap Online Z4hzVG