Channel: Cold Spring Harbor Laboratory

This collection includes bioRxiv and medRxiv papers from authors at Cold Spring Harbor Laboratory.

668 Articles

Whole genome analysis of an extended pedigree with Prader–Willi Syndrome, hereditary hemochromatosis, and dysautonomia-like symptoms

Han Fang, Yiyang Wu, Margaret Yoon, Laura T. Jiménez-Barrón, Jason A. O'Rawe, Gareth Highnam, David Mittelman, Gholson Lyon

10.1101/019182 — Posted: 2015-05-11

Genome Wide Variant Analysis of Simplex Autism Families with an Integrative Clinical-Bioinformatics Pipeline

Laura T Jiménez-Barrón, Jason A O'Rawe, Yiyang Wu, Margaret Yoon, Han Fang, Ivan Iossifov, Gholson Lyon

10.1101/019208 — Posted: 2015-05-11

Building Genomic Analysis Pipelines in a Hackathon Setting with Bioinformatician Teams: DNA-seq, Epigenomics, Metagenomics and RNA-seq

Ben Busby, Allissa Dillman, Claire L. Simpson, Ian Fingerman, Sijung Yun, David M. Kristensen, Lisa Federer, Naisha Shah, Matthew C. LaFave, Laura Jimenez-Barron, Manusha Pande, Wen Luo, Brendan Miller, Cem Mayden, Dhruva Chandramohan, Kipper Fletez-Brant, Paul W. Bible, Sergej Nowoshilow, Alfred Chan, Eric JC Galvez, Jeremy Chignell, Joseph N. Paulson, Manoj Kandpal, Suhyeon Yoon, Esther Asaki, Abhinav Nellore, Adam Stine, Robert Sanders, Jesse Becker, Matt Lesko, Mordechai Abzug, Eugene Yaschenko

10.1101/018085 — Posted: 2015-05-05

The biological functions of Naa10—from amino-terminal acetylation to human disease

Max Doerfel, Gholson Lyon

10.1101/014324 — Posted: 2015-04-21

Simple genetic models for autism spectrum disorder

Swagatam Mukhopadhyay, Michael Wigler, Dan Levy

10.1101/017301 — Posted: 2015-03-30

Metassembler: Merging and optimizing de novo genome assemblies

Alejandro Hernandez Wences, Michael Schatz

10.1101/016352 — Posted: 2015-03-10

Interactive analysis and quality assessment of single-cell copy-number variations

Tyler Garvin, Robert Aboukhalil, Jude Kendall, Timour Baslan, Gurinder S Atwal, James Hicks, Michael Wigler, Michael Schatz

10.1101/011346 — Posted: 2015-03-06

A variant in TAF1 is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features

Jason O'Rawe, Yiyang Wu, Alan Rope, Laura T. Jimenez Barrón, Jeffrey Swensen, Han Fang, David Mittelman, Gareth Highnam, Reid Robison, Edward Yang, Kai Wang, Gholson Lyon

10.1101/014050 — Posted: 2015-01-21

Enhanced Transcriptome Maps from Multiple Mouse Tissues Reveal Evolutionary Constraint in Gene Expression for Thousands of Genes

Dmitri Pervouchine, Sarah Djebali, Alessandra Breschi, Carrie A Davis, Pablo Prieto Barja, Alex Dobin, Andrea Tanzer, Julien Lagarde, Chris Zaleski, Lei-Hoon See, Meagan Fastuca, Jorg Drenkow, Huaien Wang, Giovanni Bussotti, Baikang Pei, Suganthi Balasubramanian, Jean Monlong, Arif Harmanci, Mark Gerstein, Michael A Beer, Cedric Notredame, Roderic Guigo, Thomas R Gingeras

10.1101/010884 — Posted: 2014-10-30

Automated placement of stereotactic injections using a laser scan of the skull

Margaret Henderson, Vadim Pinskiy, Alexander Tolpygo, Stephen Savoia, Pascal Grange, Partha Mitra

10.1101/010603 — Posted: 2014-10-22

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