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EMBL_GR_LB_July1_15

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Method

Resolving the full spectrum of human genome variation using Linked-Reads

Patrick Marks
Sarah Garcia
Alvaro Martinez Barrio
Kamila Belhocine
Jorge Bernate
Rajiv Bharadwaj Keith Bjornson Claudia Catalanotti Josh Delaney Adrian Fehr Ian T. Fiddes Brendan Galvin Haynes Heaton Jill Herschleb Christopher Hindson Esty Holt Cassandra B. Jabara Susanna Jett Nikka Keivanfar Sofia Kyriazopoulou-Panagiotopoulou Monkol Lek Bill Lin Adam Lowe Shazia Mahamdallie Shamoni Maheshwari Tony Makarewicz Jamie Marshall Francesca Meschi Christopher J. O'Keefe Heather Ordonez Pranav Patel Andrew Price Ariel Royall Elise Ruark Sheila Seal Michael Schnall-Levin Preyas Shah David Stafford Stephen Williams Indira Wu
... [+35 authors] ...,
Andrew Wei Xu
Nazneen Rahman
Daniel MacArthur
Deanna M. Church

First Published March 20, 2019

Method

Comparative Annotation Toolkit (CAT)—simultaneous clade and personal genome annotation

Ian T. Fiddes
Joel Armstrong
Mark Diekhans
Stefanie Nachtweide
Zev N. Kronenberg
Jason G. Underwood David Gordon Dent Earl Thomas Keane
... [+4 authors] ...,
Evan E. Eichler
David Haussler
Mario Stanke
Benedict Paten

First Published June 8, 2018

Method

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