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Research

Genome evolution in parthenogenetic nematodes shaped by chromosome rearrangements and introgression

George Chung
Lewis Stevens
Xiaoguang Dai
Scott Hickey
Karin Kiontke
Priyesh Rughani Manuela R. Kieninger Joanna C. Collins Sissel Juul
... [+4 authors] ...,
Fabio Piano
David H.A. Fitch
Mark Blaxter
Kristin C. Gunsalus

First Published May 29, 2026

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

De novo antibody identification in human blood from full-length single B cell transcriptomics and matching haplotype-resolved germline assemblies

John Beaulaurier
Lynn Ly
J. Andrew Duty
Carly Tyer
Christian Stevens
Chuan-Tien Hung Akash Sookdeo Alex W. Drong Shreyas Kowdle Axel Guzman-Solis Domenico Tortorella
... [+6 authors] ...,
Daniel J. Turner
Sissel Juul
Scott Hickey
Benhur Lee

First Published March 21, 2025

Method

Phased nanopore assembly with Shasta and modular graph phasing with GFAse

Ryan Lorig-Roach
Melissa Meredith
Jean Monlong
Miten Jain
Hugh E. Olsen
Brandy McNulty David Porubsky Tessa G. Montague Julian K. Lucas Chris Condon Jordan M. Eizenga Sissel Juul Sean K. McKenzie Sara E. Simmonds Jimin Park Mobin Asri Sergey Koren Evan E. Eichler Richard Axel
... [+14 authors] ...,
Bruce Martin
Paolo Carnevali
Karen H. Miga
Benedict Paten

First Published April 16, 2024

Method

Deep sequencing of short capped RNAs reveals novel families of noncoding RNAs

Michiel de Hoon
Alessandro Bonetti
Charles Plessy
Yoshinari Ando
Chung-Chau Hon
Yuri Ishizu Masayoshi Itoh Sachi Kato Dongyan Lin Sho Maekawa Mitsuyoshi Murata Hiromi Nishiyori Jay W. Shin Jens Stolte Ana Maria Suzuki Michihira Tagami Hazuki Takahashi Supat Thongjuea
... [+13 authors] ...,
Alistair R.R. Forrest
Yoshihide Hayashizaki
Juha Kere
Piero Carninci

First Published August 12, 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

Comparative transcriptomics of primary cells in vertebrates

Tanvir Alam
Saumya Agrawal
Jessica Severin
Robert S. Young
Robin Andersson
Erik Arner Akira Hasegawa Marina Lizio Jordan A. Ramilowski Imad Abugessaisa Yuri Ishizu Shohei Noma Hiroshi Tarui Martin S. Taylor Timo Lassmann Masayoshi Itoh Takeya Kasukawa Hideya Kawaji Luigi Marchionni Guojun Sheng Alistair R.R. Forrest
... [+16 authors] ...,
Levon M. Khachigian
Yoshihide Hayashizaki
Piero Carninci
Michiel J.L. de Hoon

First Published July 27, 2020

Method

Assembly-free single-molecule sequencing recovers complete virus genomes from natural microbial communities

John Beaulaurier
Elaine Luo
John M. Eppley
Paul Den Uyl
Xiaoguang Dai
Andrew Burger Daniel J. Turner
... [+2 authors] ...,
Matthew Pendelton
Sissel Juul
Eoghan Harrington
Edward F. DeLong

First Published February 19, 2020

Research

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

Konstantin Popadin
Stephan Peischl
Marco Garieri
M. Reza Sailani
Audrey Letourneau
Federico Santoni Samuel W. Lukowski Georgii A. Bazykin Sergey Nikolaev
... [+4 authors] ...,
Diogo Meyer
Laurent Excoffier
Alexandre Reymond
Stylianos E. Antonarakis

First Published December 13, 2017

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