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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

A deconvolution framework that uses single-cell sequencing plus a small benchmark data set for accurate analysis of cell type ratios in complex tissue samples

Shuai Guo
Xiaoqian Liu
Xuesen Cheng
Yujie Jiang
Shuangxi Ji
Qingnan Liang Andrew Koval Yumei Li Leah A. Owen Ivana K. Kim Ana Aparicio Sanghoon Lee Anil K. Sood Scott Kopetz John Paul Shen
... [+10 authors] ...,
John N. Weinstein
Margaret M. DeAngelis
Rui Chen
Wenyi Wang

First Published November 25, 2024

Method

Accelerated somatic mutation calling for whole-genome and whole-exome sequencing data from heterogenous tumor samples

Shuangxi Ji
Tong Zhu
Ankit Sethia
Wenyi Wang

First Published April 8, 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

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

Research

V(DD)J recombination is an important and evolutionarily conserved mechanism for generating antibodies with unusually long CDR3s

Yana Safonova
Pavel A. Pevzner

First Published September 18, 2020

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