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Tom Walsh
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Method
:
Resolving the chromatin impact of mosaic variants with targeted Fiber-seq
Stephanie C. Bohaczuk
,
Zachary J. Amador
,
Chang Li
,
Benjamin J. Mallory
,
Elliott G. Swanson
,
Jane Ranchalis
,
Mitchell R. Vollger
,
Katherine M. Munson
,
Tom Walsh
,
Morgan O. Hamm
,
Yizi Mao
,
Andre Lieber
,
and
Andrew B. Stergachis
Genome Res.
December 2024
34
:
2269
-
2278
;
Published in Advance
December 9, 2024
,
doi:
10.1101/gr.279747.124
Abstract
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Research
:
Long-read DNA and cDNA sequencing identify cancer-predisposing deep intronic variation in tumor-suppressor genes
Suleyman Gulsuner
,
Amal AbuRayyan
,
Jessica B. Mandell
,
Ming K. Lee
,
Greta V. Bernier
,
Barbara M. Norquist
,
Sarah B. Pierce
,
Mary-Claire King
,
and
Tom Walsh
Genome Res.
November 2024
34
:
1825
-
1831
;
Published in Advance
September 13, 2024
,
doi:
10.1101/gr.279158.124
Abstract
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Research
:
Actionable exomic incidental findings in 6503 participants: challenges of variant classification
Laura M. Amendola
,
Michael O. Dorschner
,
Peggy D. Robertson
,
Joseph S. Salama
,
Ragan Hart
,
Brian H. Shirts
,
Mitzi L. Murray
,
Mari J. Tokita
,
Carlos J. Gallego
,
Daniel Seung Kim
,
James T. Bennett
,
David R. Crosslin
,
Jane Ranchalis
,
Kelly L. Jones
,
Elisabeth A. Rosenthal
,
Ella R. Jarvik
,
Andy Itsara
,
Emily H. Turner
,
Daniel S. Herman
,
Jennifer Schleit
,
Amber Burt
,
Seema M. Jamal
,
Jenica L. Abrudan
,
Andrew D. Johnson
,
Laura K. Conlin
,
Matthew C. Dulik
,
Avni Santani
,
Danielle R. Metterville
,
Melissa Kelly
,
Ann Katherine M. Foreman
,
Kristy Lee
,
Kent D. Taylor
,
Xiuqing Guo
,
Kristy Crooks
,
Lesli A. Kiedrowski
,
Leslie J. Raffel
,
Ora Gordon
,
Kalotina Machini
,
Robert J. Desnick
,
Leslie G. Biesecker
,
Steven A. Lubitz
,
Surabhi Mulchandani
,
Greg M. Cooper
,
Steven Joffe
,
C. Sue Richards
,
Yaoping Yang
,
Jerome I. Rotter
,
Stephen S. Rich
,
Christopher J. O’Donnell
,
Jonathan S. Berg
,
Nancy B. Spinner
,
James P. Evans
,
Stephanie M. Fullerton
,
Kathleen A. Leppig
,
Robin L. Bennett
,
Thomas Bird
,
Virginia P. Sybert
,
William M. Grady
,
Holly K. Tabor
,
Jerry H. Kim
,
Michael J. Bamshad
,
Benjamin Wilfond
,
Arno G. Motulsky
,
C. Ronald Scott
,
Colin C. Pritchard
,
Tom D. Walsh
,
Wylie Burke
,
Wendy H. Raskind
,
Peter Byers
,
Fuki M. Hisama
,
Heidi Rehm
,
Debbie A. Nickerson
,
and
Gail P. Jarvik
Genome Res.
March 2015
25
:
305
-
315
;
Published in Advance
January 30, 2015
,
doi:
10.1101/gr.183483.114
Abstract
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Single-cell gene signature scoring
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