Publications by authors named "Danielle Perrin"

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Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.
Ryan L Collins, Harrison Brand, Claire E Redin, Carrie Hanscom, Caroline Antolik, Danielle Perrin

Genome Biol· March 2017

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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Claire Redin, Harrison Brand, Ryan L Collins, Tammy Kammin, Elyse Mitchell, Danielle Perrin

Nat Genet· January 2017

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Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.
Eliezer M Van Allen, Nikhil Wagle, Petar Stojanov, Danielle L Perrin, Kristian Cibulskis

Nat Med· June 2014

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MAP kinase pathway alterations in BRAF-mutant melanoma patients with acquired resistance to combined RAF/MEK inhibition.
Nikhil Wagle, Eliezer M Van Allen, Daniel J Treacy, Dennie T Frederick, Zachary A Cooper, Danielle Perrin

Cancer Discov· January 2014

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Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation.
Maura Costello, Trevor J Pugh, Timothy J Fennell, Chip Stewart, Lee Lichtenstein, Danielle Perrin

Nucleic Acids Res· April 2013

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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Andrew Kirby, Andreas Gnirke, David B Jaffe, Veronika Barešová, Nathalie Pochet, Danielle Perrin

Nat Genet· March 2013

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A scalable, fully automated process for construction of sequence-ready barcoded libraries for 454.
Niall J Lennon, Robert E Lintner, Scott Anderson, Pablo Alvarez, Andrew Barry, Danielle Perrin

Genome Biol· August 2010

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Genome sequence, comparative analysis and haplotype structure of the domestic dog.
Kerstin Lindblad-Toh, Claire M Wade, Tarjei S Mikkelsen, Elinor K Karlsson, David B Jaffe, Danielle Perrin

Nature· December 2005

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