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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

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

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

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

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

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

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

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Laura M. Amendola
Michael O. Dorschner
Peggy D. Robertson
Joseph S. Salama
Ragan Hart
Brian H. Shirts Mitzi L. Murray Mari J. Tokita Carlos J. Gallego Daniel Seung Kim James T. Bennett David R. Crosslin Jane Ranchalis Kelly L. Jones Elisabeth A. Rosenthal Ella R. Jarvik Andy Itsara Emily H. Turner Daniel S. Herman Jennifer Schleit Amber Burt Seema M. Jamal Jenica L. Abrudan Andrew D. Johnson Laura K. Conlin Matthew C. Dulik Avni Santani Danielle R. Metterville Melissa Kelly Ann Katherine M. Foreman Kristy Lee Kent D. Taylor Xiuqing Guo Kristy Crooks Lesli A. Kiedrowski Leslie J. Raffel Ora Gordon Kalotina Machini Robert J. Desnick Leslie G. Biesecker Steven A. Lubitz Surabhi Mulchandani Greg M. Cooper Steven Joffe C. Sue Richards Yaoping Yang Jerome I. Rotter Stephen S. Rich Christopher J. O’Donnell Jonathan S. Berg Nancy B. Spinner James P. Evans Stephanie M. Fullerton Kathleen A. Leppig Robin L. Bennett Thomas Bird Virginia P. Sybert William M. Grady Holly K. Tabor Jerry H. Kim Michael J. Bamshad Benjamin Wilfond Arno G. Motulsky C. Ronald Scott Colin C. Pritchard Tom D. Walsh Wylie Burke Wendy H. Raskind Peter Byers
... [+64 authors] ...,
Fuki M. Hisama
Heidi Rehm
Debbie A. Nickerson
Gail P. Jarvik

First Published January 30, 2015

Genomic contributions to Mendelian disease

Aravinda Chakravarti

First Published May 2, 2011

Human embryonic stem cells have a unique epigenetic signature

Marina Bibikova
Eugene Chudin
Bonnie Wu
Lixin Zhou
Eliza Wickham Garcia
Ying Liu Soojung Shin Todd W. Plaia Jonathan M. Auerbach Dan E. Arking Rodolfo Gonzalez Jeremy Crook Bruce Davidson Thomas C. Schulz Allan Robins Aparna Khanna Peter Sartipy Johan Hyllner Padmavathy Vanguri Smita Savant-Bhonsale Alan K. Smith Aravinda Chakravarti Anirban Maitra
... [+18 authors] ...,
Mahendra Rao
David L. Barker
Jeanne F. Loring
Jian-Bing Fan

First Published August 9, 2006

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