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Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing

  • Kristine Bilgrav Saether
  • Angelo Salazar Mantero
  • Marlene Ek
  • Maria Pettersson
  • Elisabeth Syk Lundberg
  • Christopher M. Grochowski
  • Claudia M.B. Carvalho
  • Jesper Eisfeldt
  • Anna Lindstrand
  • First Published March 25, 2026

An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes

  • Chong Li
  • Marc Jan Bonder
  • Sabriya Syed
  • Matthew Jensen
  • Mark B. Gerstein
  • Michael C. Zody Mark J.P. Chaisson Michael E. Talkowski Tobias Marschall
  • ... [+4 authors] ...,
  • Jan O. Korbel
  • Evan E. Eichler
  • Charles Lee
  • Xinghua Shi
  • First Published December 5, 2024

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps

  • Kristine Bilgrav Saether
  • Jesper Eisfeldt
  • Jesse D. Bengtsson
  • Ming Yin Lun
  • Christopher M. Grochowski
  • Medhat Mahmoud Hsiao-Tuan Chao Jill A. Rosenfeld Pengfei Liu Marlene Ek Jakob Schuy Adam Ameur Hongzheng Dai James Paul Hwang Fritz J. Sedlazeck Weimin Bi Ronit Marom
  • ... [+12 authors] ...,
  • Josephine Wincent
  • Ann Nordgren
  • Claudia M.B. Carvalho
  • Anna Lindstrand
  • First Published November 1, 2024

Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing

  • Jesper Eisfeldt
  • Edward J. Higginbotham
  • Felix Lenner
  • Jennifer Howe
  • Bridget A. Fernandez
  • Anna Lindstrand
  • Stephen W. Scherer
  • Lars Feuk
  • First Published October 29, 2024

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

  • Jesper Eisfeldt
  • Adam Ameur
  • Felix Lenner
  • Esmee Ten Berk de Boer
  • Marlene Ek
  • Josephine Wincent Raquel Vaz Jesper Ottosson Tord Jonson Sofie Ivarsson Sofia Thunström Alexandra Topa Simon Stenberg Anna Rohlin Anna Sandestig Margareta Nordling Pia Palmebäck Magnus Burstedt Frida Nordin Eva-Lena Stattin Maria Sobol Panagiotis Baliakas Marie-Louise Bondeson Ida Höijer Kristine Bilgrav Saether Lovisa Lovmar
  • ... [+21 authors] ...,
  • Hans Ehrencrona
  • Malin Melin
  • Lars Feuk
  • Anna Lindstrand
  • First Published October 29, 2024

Assessing and mitigating privacy risks of sparse, noisy genotypes by local alignment to haplotype databases

  • Prashant S. Emani
  • Maya N. Geradi
  • Gamze Gürsoy
  • Monica R. Grasty
  • Andrew Miranker
  • Mark B. Gerstein
  • First Published December 14, 2023

Yeast genetic interaction screen of human genes associated with amyotrophic lateral sclerosis: identification of MAP2K5 kinase as a potential drug target

  • Myungjin Jo
  • Ah Young Chung
  • Nozomu Yachie
  • Minchul Seo
  • Hyejin Jeon
  • Youngpyo Nam Yeojin Seo Eunmi Kim Quan Zhong
  • ... [+4 authors] ...,
  • Marc Vidal
  • Hae Chul Park
  • Frederick P. Roth
  • Kyoungho Suk
  • First Published June 8, 2017

Dynamic RNA–protein interactions underlie the zebrafish maternal-to-zygotic transition

  • Vladimir Despic
  • Mario Dejung
  • Mengting Gu
  • Jayanth Krishnan
  • Jing Zhang
  • Lydia Herzel
  • ... [+1 authors] ...,
  • Korinna Straube
  • Mark B. Gerstein
  • Falk Butter
  • Karla M. Neugebauer
  • First Published April 5, 2017

Pangolin genomes and the evolution of mammalian scales and immunity

  • Siew Woh Choo
  • Mike Rayko
  • Tze King Tan
  • Ranjeev Hari
  • Aleksey Komissarov
  • Wei Yee Wee Andrey A. Yurchenko Sergey Kliver Gaik Tamazian Agostinho Antunes Richard K. Wilson Wesley C. Warren Klaus-Peter Koepfli Patrick Minx Ksenia Krasheninnikova Antoinette Kotze Desire L. Dalton Elaine Vermaak Ian C. Paterson Pavel Dobrynin Frankie Thomas Sitam Jeffrine J. Rovie-Ryan Warren E. Johnson Aini Mohamed Yusoff Shu-Jin Luo Kayal Vizi Karuppannan Gang Fang Deyou Zheng
  • ... [+23 authors] ...,
  • Mark B. Gerstein
  • Leonard Lipovich
  • Stephen J. O'Brien
  • Guat Jah Wong
  • First Published August 10, 2016

An extended set of yeast-based functional assays accurately identifies human disease mutations

  • Song Sun
  • Fan Yang
  • Guihong Tan
  • Michael Costanzo
  • Rose Oughtred
  • Jodi Hirschman Chandra L. Theesfeld Pritpal Bansal Nidhi Sahni Song Yi Analyn Yu Tanya Tyagi Cathy Tie David E. Hill Marc Vidal
  • ... [+10 authors] ...,
  • Brenda J. Andrews
  • Charles Boone
  • Kara Dolinski
  • Frederick P. Roth
  • First Published March 14, 2016
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