Filter results by:
Author
Publication date
Article type

Filter by Article type

Your search for returned 52 results

Save search
Order by:
Show per page
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
Method

Analyzing rare mutations in metagenomes assembled using long and accurate reads

  • Marcus W. Fedarko
  • Mikhail Kolmogorov
  • Pavel A. Pevzner
  • First Published November 23, 2022
Method

Fast and accurate mapping of long reads to complete genome assemblies with VerityMap

  • Andrey V. Bzikadze
  • Alla Mikheenko
  • Pavel A. Pevzner
  • First Published November 15, 2022
Method

Automated annotation of human centromeres with HORmon

  • Olga Kunyavskaya
  • Tatiana Dvorkina
  • Andrey V. Bzikadze
  • Ivan A. Alexandrov
  • Pavel A. Pevzner
  • First Published May 11, 2022
Method

Gene prediction in the immunoglobulin loci

  • Vikram Sirupurapu
  • Yana Safonova
  • Pavel A. Pevzner
  • First Published May 11, 2022
Method

Variations in antibody repertoires correlate with vaccine responses

  • Yana Safonova
  • Sung Bong Shin
  • Luke Kramer
  • James Reecy
  • Corey T. Watson
  • Timothy P.L. Smith
  • Pavel A. Pevzner
  • First Published March 31, 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
Show per page