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Method

Detection of long repeat expansions from PCR-free whole-genome sequence data

  • Egor Dolzhenko
  • Joke J.F.A. van Vugt
  • Richard J. Shaw
  • Mitchell A. Bekritsky
  • Marka van Blitterswijk
  • Giuseppe Narzisi Subramanian S. Ajay Vani Rajan Bryan R. Lajoie Nathan H. Johnson Zoya Kingsbury Sean J. Humphray Raymond D. Schellevis William J. Brands Matt Baker Rosa Rademakers Maarten Kooyman Gijs H.P. Tazelaar Michael A. van Es Russell McLaughlin William Sproviero Aleksey Shatunov Ashley Jones Ahmad Al Khleifat Alan Pittman Sarah Morgan Orla Hardiman Ammar Al-Chalabi Chris Shaw Bradley Smith Edmund J. Neo Karen Morrison Pamela J. Shaw Catherine Reeves Lara Winterkorn Nancy S. Wexler David E. Housman Christopher W. Ng Alina L. Li Ryan J. Taft
  • ... [+35 authors] ...,
  • Leonard H. van den Berg
  • David R. Bentley
  • Jan H. Veldink
  • Michael A. Eberle
  • First Published September 8, 2017
Resource

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

  • Michael A. Eberle
  • Epameinondas Fritzilas
  • Peter Krusche
  • Morten Källberg
  • Benjamin L. Moore
  • Mitchell A. Bekritsky Zamin Iqbal Han-Yu Chuang Sean J. Humphray Aaron L. Halpern
  • ... [+5 authors] ...,
  • Semyon Kruglyak
  • Elliott H. Margulies
  • Gil McVean
  • David R. Bentley
  • First Published November 30, 2016
LETTER

Genomic regions exhibiting positive selection identified from dense genotype data

  • Christopher S. Carlson
  • Daryl J. Thomas
  • Michael A. Eberle
  • Johanna E. Swanson
  • Robert J. Livingston
  • Mark J. Rieder
  • Deborah A. Nickerson
  • First Published October 26, 2005
ARTICLE

Canis familiaris" > Extensive and breed-specific linkage disequilibrium in Canis familiaris

  • Nathan B. Sutter
  • Michael A. Eberle
  • Heidi G. Parker
  • Barbara J. Pullar
  • Ewen F. Kirkness
  • Leonid Kruglyak
  • Elaine A. Ostrander
  • First Published November 15, 2004
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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