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Closing the gaps, and improving somatic structural variant analysis and benchmarking using CHM13-T2T

Luis F. Paulin
Jeremy Fan
Kieran O'Neill
Erin Pleasance
Vanessa L. Porter
Steven J.M. Jones
Fritz J. Sedlazeck

First Published March 17, 2025

Rearrangements of viral and human genomes at human papillomavirus integration events and their allele-specific impacts on cancer genome regulation

Vanessa L. Porter
Michelle Ng
Kieran O'Neill
Signe MacLennan
Richard D. Corbett
Luka Culibrk Zeid Hamadeh Marissa Iden Rachel Schmidt Shirng-Wern Tsaih Carolyn Nakisige Martin Origa Jackson Orem Glenn Chang Jeremy Fan Ka Ming Nip Vahid Akbari Simon K. Chan James Hopkins Richard A. Moore Eric Chuah Karen L. Mungall Andrew J. Mungall
... [+18 authors] ...,
Inanc Birol
Steven J.M. Jones
Janet S. Rader
Marco A. Marra

First Published December 5, 2024

C. Thomas Caskey (1938–2022)

Richard A. Gibbs
Aravinda Chakravarti
Evan E. Eichler
Eric D. Green
Richard M. Myers
Anne C. Ferguson-Smith
Kateryna D. Makova
Hillary E. Sussman

First Published February 17, 2022

Deborah A. Nickerson (1954 –2021)

Aravinda Chakravarti
Evan E. Eichler
Richard A. Gibbs
Eric D. Green
Richard M. Myers
Hillary E. Sussman

First Published January 24, 2022

Complex mosaic structural variations in human fetal brains

Shobana Sekar
Livia Tomasini
Christos Proukakis
Taejeong Bae
Logan Manlove
Yeongjun Jang Soraya Scuderi Bo Zhou Maria Kalyva Anahita Amiri Jessica Mariani
... [+6 authors] ...,
Fritz J. Sedlazeck
Alexander E. Urban
Flora M. Vaccarino
Alexej Abyzov

First Published October 29, 2020

TERT aberrations in acral melanoma" > Integrated genomic analyses reveal frequent TERT aberrations in acral melanoma

Winnie S. Liang
William Hendricks
Jeffrey Kiefer
Jessica Schmidt
Shobana Sekar
John Carpten David W. Craig Jonathan Adkins Lori Cuyugan Zarko Manojlovic Rebecca F. Halperin Adrienne Helland Sara Nasser Christophe Legendre Laurence H. Hurley Karthigayini Sivaprakasam Douglas B. Johnson Holly Crandall Klaus J. Busam Victoria Zismann Valerie Deluca Jeeyun Lee
... [+17 authors] ...,
Aleksandar Sekulic
Charlotte E. Ariyan
Jeffrey Sosman
Jeffrey Trent

First Published April 3, 2017

Spark: A navigational paradigm for genomic data exploration

Cydney B. Nielsen
Hamid Younesy
Henriette O'Geen
Xiaoqin Xu
Andrew R. Jackson
Aleksandar Milosavljevic Ting Wang
... [+2 authors] ...,
Joseph F. Costello
Martin Hirst
Peggy J. Farnham
Steven J.M. Jones

First Published September 7, 2012

XIST locus" > Comparative analysis of the primate X-inactivation center region and reconstruction of the ancestral primate XIST locus

Julie E. Horvath
Christina B. Sheedy
Stephanie L. Merrett
Abdoulaye Banire Diallo
David L. Swofford
NISC Comparative Sequencing Program
Eric D. Green
Huntington F. Willard

First Published April 25, 2011

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

Jamie K. Teer
Lori L. Bonnycastle
Peter S. Chines
Nancy F. Hansen
Natsuyo Aoyama
Amy J. Swift Hatice Ozel Abaan Thomas J. Albert Elliott H. Margulies
... [+4 authors] ...,
Eric D. Green
Francis S. Collins
James C. Mullikin
Leslie G. Biesecker

First Published September 1, 2010

Locus co-occupancy, nucleosome positioning, and H3K4me1 regulate the functionality of FOXA2-, HNF4A-, and PDX1-bound loci in islets and liver

Brad G. Hoffman
Gordon Robertson
Bogard Zavaglia
Mike Beach
Rebecca Cullum
Sam Lee Galina Soukhatcheva Leping Li Elizabeth D. Wederell Nina Thiessen Mikhail Bilenky Timothee Cezard Angela Tam Baljit Kamoh Inanc Birol Derek Dai YongJun Zhao Martin Hirst C. Bruce Verchere
... [+14 authors] ...,
Cheryl D. Helgason
Marco A. Marra
Steven J.M. Jones
Pamela A. Hoodless

First Published June 15, 2010

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