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Research

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

  • Konstantin Popadin
  • Stephan Peischl
  • Marco Garieri
  • M. Reza Sailani
  • Audrey Letourneau
  • Federico Santoni Samuel W. Lukowski Georgii A. Bazykin Sergey Nikolaev
  • ... [+4 authors] ...,
  • Diogo Meyer
  • Laurent Excoffier
  • Alexandre Reymond
  • Stylianos E. Antonarakis
  • First Published December 13, 2017
Resource

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

  • Federico A. Santoni
  • Periklis Makrythanasis
  • Sergey Nikolaev
  • Michel Guipponi
  • Daniel Robyr
  • Armand Bottani
  • Stylianos E. Antonarakis
  • First Published January 3, 2014
ARTICLE

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

  • Elliott H. Margulies
  • Gregory M. Cooper
  • George Asimenos
  • Daryl J. Thomas
  • Colin N. Dewey
  • Adam Siepel Ewan Birney Damian Keefe Ariel S. Schwartz Minmei Hou James Taylor Sergey Nikolaev Juan I. Montoya-Burgos Ari Löytynoja Simon Whelan Fabio Pardi Tim Massingham James B. Brown Peter Bickel Ian Holmes James C. Mullikin Abel Ureta-Vidal Benedict Paten Eric A. Stone Kate R. Rosenbloom W. James Kent Gerard G. Bouffard Xiaobin Guan Nancy F. Hansen Jacquelyn R. Idol Valerie V.B. Maduro Baishali Maskeri Jennifer C. McDowell Morgan Park Pamela J. Thomas Alice C. Young Robert W. Blakesley Donna M. Muzny Erica Sodergren David A. Wheeler Kim C. Worley Huaiyang Jiang George M. Weinstock Richard A. Gibbs Tina Graves Robert Fulton Elaine R. Mardis Richard K. Wilson Michele Clamp James Cuff Sante Gnerre David B. Jaffe Jean L. Chang Kerstin Lindblad-Toh Eric S. Lander Angie Hinrichs Heather Trumbower Hiram Clawson Ann Zweig Robert M. Kuhn Galt Barber Rachel Harte Donna Karolchik Matthew A. Field Richard A. Moore Carrie A. Matthewson Jacqueline E. Schein Marco A. Marra Stylianos E. Antonarakis Serafim Batzoglou Nick Goldman Ross Hardison David Haussler
  • ... [+68 authors] ...,
  • Webb Miller
  • Lior Pachter
  • Eric D. Green
  • Arend Sidow
  • First Published June 13, 2007
ARTICLE

Methods for precise sizing, automated binning of alleles, and reduction of error rates in large-scale genotyping using fluorescently labeled dinucleotide markers. FUSION (Finland-U.S. Investigation of NIDDM Genetics) Study Group.

  • S Ghosh
  • Z E Karanjawala
  • E R Hauser
  • D Ally
  • J I Knapp
  • J B Rayman A Musick J Tannenbaum C Te S Shapiro W Eldridge T Musick C Martin J R Smith J D Carpten M J Brownstein J I Powell R Whiten P Chines
  • ... [+14 authors] ...,
  • S J Nylund
  • V L Magnuson
  • M Boehnke
  • F S Collins
  • First Published February 1, 1997
ARTICLE

Approach to genotyping errors caused by nontemplated nucleotide addition by Taq DNA polymerase.

  • J R Smith
  • J D Carpten
  • M J Brownstein
  • S Ghosh
  • V L Magnuson
  • D A Gilbert
  • J M Trent
  • F S Collins
  • First Published October 1, 1995
ARTICLE

Use of stock solutions to simplify mRNA quantitation by reverse transcription--PCR assays.

  • D Chen
  • V L Magnuson
  • B Steffensen
  • R J Klebe
  • First Published May 1, 1993
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