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Research

cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia" > Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia

Hao Zhu
Jiao Zhang
Soumya Rao
Matthew D. Durbin
Ying Li
Ruirui Lang Jiqiang Liu Baichuan Xiao Hailin Shan Ziqiu Meng Jinmo Wang Xiaokai Tang Zhenni Shi Liza L. Cox Shouqin Zhao Stephanie M. Ware Tiong Y. Tan Michelle de Silva Lyndon Gallacher Ting Liu Jie Mi Changqing Zeng Hou-Feng Zheng
... [+18 authors] ...,
Qingguo Zhang
Stylianos E. Antonarakis
Timothy C. Cox
Yong-Biao Zhang

First Published April 15, 2025

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
... [+4 authors] ...,
Morgan O. Hamm
Yizi Mao
Andre Lieber
Andrew B. Stergachis

First Published December 9, 2024

Method

fibertools" > DNA-m6A calling and integrated long-read epigenetic and genetic analysis with fibertools

Anupama Jha
Stephanie C. Bohaczuk
Yizi Mao
Jane Ranchalis
Benjamin J. Mallory
Alan T. Min Morgan O. Hamm Elliott Swanson Danilo Dubocanin Connor Finkbeiner Tony Li
... [+6 authors] ...,
Dale Whittington
William Stafford Noble
Andrew B. Stergachis
Mitchell R. Vollger

First Published June 7, 2024

Research

Gaps and complex structurally variant loci in phased genome assemblies

David Porubsky
Mitchell R. Vollger
William T. Harvey
Allison N. Rozanski
Peter Ebert
Glenn Hickey Patrick Hasenfeld Ashley D. Sanders Catherine Stober Jan O. Korbel Benedict Paten Tobias Marschall Evan E. Eichler Haley J. Abel Lucinda L. Antonacci-Fulton Mobin Asri Gunjan Baid Carl A. Baker Anastasiya Belyaeva Konstantinos Billis Guillaume Bourque Silvia Buonaiuto Andrew Carroll Mark J.P. Chaisson Pi-Chuan Chang Xian H. Chang Haoyu Cheng Justin Chu Sarah Cody Vincenza Colonna Daniel E. Cook Robert M. Cook-Deegan Omar E. Cornejo Mark Diekhans Daniel Doerr Peter Ebert Jana Ebler Evan E. Eichler Jordan M. Eizenga Susan Fairley Olivier Fedrigo Adam L. Felsenfeld Xiaowen Feng Christian Fischer Paul Flicek Giulio Formenti Adam Frankish Robert S. Fulton Yan Gao Shilpa Garg Erik Garrison Nanibaa’ A. Garrison Carlos Garcia Giron Richard E. Green Cristian Groza Andrea Guarracino Leanne Haggerty Ira M. Hall William T. Harvey Marina Haukness David Haussler Simon Heumos Glenn Hickey Kendra Hoekzema Thibaut Hourlier Kerstin Howe Miten Jain Erich D. Jarvis Hanlee P. Ji Eimear E. Kenny Barbara A. Koenig Alexey Kolesnikov Jan O. Korbel Jennifer Kordosky Sergey Koren HoJoon Lee Alexandra P. Lewis Heng Li Wen-Wei Liao Shuangjia Lu Tsung-Yu Lu Julian K. Lucas Hugo Magalhães Santiago Marco-Sola Pierre Marijon Charles Markello Tobias Marschall Fergal J. Martin Ann McCartney Jennifer McDaniel Karen H. Miga Matthew W. Mitchell Jean Monlong Jacquelyn Mountcastle Katherine M. Munson Moses Njagi Mwaniki Maria Nattestad Adam M. Novak Sergey Nurk Hugh E. Olsen Nathan D. Olson Benedict Paten Trevor Pesout Adam M. Phillippy Alice B. Popejoy David Porubsky Pjotr Prins Daniela Puiu Mikko Rautiainen Allison A. Regier Arang Rhie Samuel Sacco Ashley D. Sanders Valerie A. Schneider Baergen I. Schultz Kishwar Shafin Jonas A. Sibbesen Jouni Sirén Michael W. Smith Heidi J. Sofia Ahmad N. Abou Tayoun Françoise Thibaud-Nissen Chad Tomlinson Francesca Floriana Tricomi Flavia Villani Mitchell R. Vollger Justin Wagner Brian Walenz
... [+123 authors] ...,
Ting Wang
Jonathan M.D. Wood
Aleksey V. Zimin
Justin M. Zook

First Published May 10, 2023

Research

Diversity, duplication, and genomic organization of homeobox genes in Lepidoptera

Peter O. Mulhair
Liam Crowley
Douglas H. Boyes
Amber Harper
Owen T. Lewis
Peter W.H. Holland Mark Blaxter Nova Mieszkowska Federica Di Palma Peter Holland Richard Durbin Thomas Richards Matthew Berriman Paul Kersey Peter Hollingsworth Willie Wilson Alex Twyford Ester Gaya Mara Lawniczak Owen Lewis Gavin Broad
... [+16 authors] ...,
Kevin Howe
Michelle Hart
Paul Flicek
Ian Barnes

First Published December 8, 2022

Perspective

Short arms of human acrocentric chromosomes and the completion of the human genome sequence

Stylianos E. Antonarakis

First Published March 31, 2022

In memoriam

Haig H. Kazazian, Jr. (1937–2022)

Stylianos E. Antonarakis
Stuart H. Orkin

First Published March 21, 2022

Research

Chromatin activation as a unifying principle underlying pathogenic mechanisms in multiple myeloma

Raquel Ordoñez
Marta Kulis
Nuria Russiñol
Vicente Chapaprieta
Arantxa Carrasco-Leon
Beatriz García-Torre Stella Charalampopoulou Guillem Clot Renée Beekman Cem Meydan Martí Duran-Ferrer Núria Verdaguer-Dot Roser Vilarrasa-Blasi Paula Soler-Vila Leire Garate Estíbaliz Miranda Edurne San José-Enériz Juan R. Rodriguez-Madoz Teresa Ezponda Rebeca Martínez-Turrilas Amaia Vilas-Zornoza David Lara-Astiaso Daphné Dupéré-Richer Joost H.A. Martens Halima El-Omri Ruba Y. Taha Maria J. Calasanz Bruno Paiva Jesus San Miguel Paul Flicek Ivo Gut Ari Melnick Constantine S. Mitsiades Jonathan D. Licht Elias Campo
... [+30 authors] ...,
Hendrik G. Stunnenberg
Xabier Agirre
Felipe Prosper
Jose I. Martin-Subero

First Published August 20, 2020

Resource

A chromosome-level assembly of the Atlantic herring genome—detection of a supergene and other signals of selection

Mats E. Pettersson
Christina M. Rochus
Fan Han
Junfeng Chen
Jason Hill
Ola Wallerman Guangyi Fan Xiaoning Hong Qiwu Xu He Zhang Shanshan Liu Xin Liu Leanne Haggerty Toby Hunt Fergal J. Martin
... [+10 authors] ...,
Paul Flicek
Ignas Bunikis
Arild Folkvord
Leif Andersson

First Published October 24, 2019

Method

Chromosome assembly of large and complex genomes using multiple references

Mikhail Kolmogorov
Joel Armstrong
Brian J. Raney
Ian Streeter
Matthew Dunn
Fengtang Yang Duncan Odom Paul Flicek
... [+3 authors] ...,
Thomas M. Keane
David Thybert
Benedict Paten
Son Pham

First Published October 19, 2018

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Your search for returned 55 results

Research

cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia" > Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia

Method

Resolving the chromatin impact of mosaic variants with targeted Fiber-seq

Method

fibertools" > DNA-m6A calling and integrated long-read epigenetic and genetic analysis with fibertools

Research

Gaps and complex structurally variant loci in phased genome assemblies

Research

Diversity, duplication, and genomic organization of homeobox genes in Lepidoptera

Perspective

Short arms of human acrocentric chromosomes and the completion of the human genome sequence

In memoriam

Haig H. Kazazian, Jr. (1937–2022)

Research

Chromatin activation as a unifying principle underlying pathogenic mechanisms in multiple myeloma

Resource

A chromosome-level assembly of the Atlantic herring genome—detection of a supergene and other signals of selection

Method

Chromosome assembly of large and complex genomes using multiple references

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Your search for returned 55 results

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