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Research

Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides

  • Sidi Zhang
  • Kaitlin E. Samocha
  • Manuel A. Rivas
  • Konrad J. Karczewski
  • Emma Daly
  • Ben Schmandt
  • Benjamin M. Neale
  • Daniel G. MacArthur
  • Mark J. Daly
  • First Published June 1, 2018
Research

The landscape of genomic imprinting across diverse adult human tissues

  • Yael Baran
  • Meena Subramaniam
  • Anne Biton
  • Taru Tukiainen
  • Emily K. Tsang
  • Manuel A. Rivas Matti Pirinen Maria Gutierrez-Arcelus Kevin S. Smith Kim R. Kukurba Rui Zhang Celeste Eng Dara G. Torgerson Cydney Urbanek Jin Billy Li Jose R. Rodriguez-Santana Esteban G. Burchard Max A. Seibold
  • ... [+13 authors] ...,
  • Daniel G. MacArthur
  • Stephen B. Montgomery
  • Noah A. Zaitlen
  • Tuuli Lappalainen
  • First Published May 7, 2015
Research

The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes

  • Stephen B. Montgomery
  • David L. Goode
  • Erika Kvikstad
  • Cornelis A. Albers
  • Zhengdong D. Zhang
  • Xinmeng Jasmine Mu Guruprasad Ananda Bryan Howie Konrad J. Karczewski Kevin S. Smith Vanessa Anaya Rhea Richardson Joe Davis Daniel G. MacArthur Arend Sidow Laurent Duret Mark Gerstein
  • ... [+12 authors] ...,
  • Kateryna D. Makova
  • Jonathan Marchini
  • Gil McVean
  • Gerton Lunter
  • First Published March 11, 2013
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