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Resource

Integrated single-cell multiome analysis reveals muscle fiber-type gene regulatory circuitry modulated by endurance exercise

Aliza B. Rubenstein
Gregory R. Smith
Zidong Zhang
Xi Chen
Toby L. Chambers
Frederique Ruf-Zamojski Natalia Mendelev Wan Sze Cheng Michel Zamojski Mary Anne S. Amper Venugopalan D. Nair Andrew R. Marderstein Stephen B. Montgomery Olga G. Troyanskaya
... [+9 authors] ...,
Elena Zaslavsky
Todd Trappe
Scott Trappe
Stuart C. Sealfon

First Published May 20, 2025

Method

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease

Tanner D. Jensen
Bohan Ni
Chloe M. Reuter
John E. Gorzynski
Sarah Fazal
Devon Bonner Rachel A. Ungar Pagé C. Goddard Archana Raja Euan A. Ashley Jonathan A. Bernstein Stephan Zuchner Michael D. Greicius
... [+8 authors] ...,
Stephen B. Montgomery
Michael C. Schatz
Matthew T. Wheeler
Alexis Battle

First Published March 20, 2025

Resource

High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation

Jonas A. Gustafson
Sophia B. Gibson
Nikhita Damaraju
Miranda P.G. Zalusky
Kendra Hoekzema
David Twesigomwe Lei Yang Anthony A. Snead Phillip A. Richmond Wouter De Coster Nathan D. Olson Andrea Guarracino Qiuhui Li Angela L. Miller Joy Goffena Zachary B. Anderson Sophie H.R. Storz Sydney A. Ward Maisha Sinha Claudia Gonzaga-Jauregui Wayne E. Clarke Anna O. Basile André Corvelo Catherine Reeves Adrienne Helland Rajeeva Lochan Musunuri Mahler Revsine Karynne E. Patterson Cate R. Paschal Christina Zakarian Sara Goodwin Tanner D. Jensen Esther Robb William Richard McCombie Fritz J. Sedlazeck Justin M. Zook Stephen B. Montgomery Erik Garrison Mikhail Kolmogorov Michael C. Schatz Richard N. McLaughlin Harriet Dashnow Michael C. Zody
... [+38 authors] ...,
Matt Loose
Miten Jain
Evan E. Eichler
Danny E. Miller

First Published October 2, 2024

Resource

Precision environmental health monitoring by longitudinal exposome and multi-omics profiling

Peng Gao
Xiaotao Shen
Xinyue Zhang
Chao Jiang
Sai Zhang
Xin Zhou
Sophia Miryam Schüssler-Fiorenza Rose
Michael Snyder

First Published June 6, 2022

In memoriam

C. Thomas Caskey (1938–2022)

Richard A. Gibbs
Aravinda Chakravarti
Evan E. Eichler
Eric D. Green
Richard M. Myers
Anne C. Ferguson-Smith
Kateryna D. Makova
Hillary E. Sussman

First Published February 17, 2022

In memoriam

Deborah A. Nickerson (1954 –2021)

Aravinda Chakravarti
Evan E. Eichler
Richard A. Gibbs
Eric D. Green
Richard M. Myers
Hillary E. Sussman

First Published January 24, 2022

Research

RET regulatory code is disrupted in Hirschsprung disease" > A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease

Sumantra Chatterjee
Kameko M. Karasaki
Lauren E. Fries
Ashish Kapoor
Aravinda Chakravarti

First Published November 15, 2021

Method

Sequence-based correction of barcode bias in massively parallel reporter assays

Dongwon Lee
Ashish Kapoor
Changhee Lee
Michael Mudgett
Michael A. Beer
Aravinda Chakravarti

First Published July 20, 2021

Method

cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants" > Human cardiac cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants

Dongwon Lee
Ashish Kapoor
Alexias Safi
Lingyun Song
Marc K. Halushka
Gregory E. Crawford
Aravinda Chakravarti

First Published August 23, 2018

Method

Microfluidic isoform sequencing shows widespread splicing coordination in the human transcriptome

Hagen Tilgner
Fereshteh Jahanbani
Ishaan Gupta
Paul Collier
Eric Wei
Morten Rasmussen
Michael Snyder

First Published December 1, 2017

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