Login / Signup

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.

Tuğçe B BalcıT HartleyY XiD A DymentC L BeaulieuF P BernierL DupuisG A HorvathR Mendoza-LondonoC PrasadJ RicherX-R YangC M ArmourE BarekeB A FernandezH J McMillanR E LamontJ MajewskiJ S ParboosinghA N PrasadC A RuparJ SchwartzentruberA C SmithM Tétreaultnull nullnull nullA M InnesKym M Boycott
Published in: Clinical genetics (2017)
Our findings highlight the importance of comprehensive clinical phenotyping of family members to ultimately provide accurate genetic counseling.
Keyphrases
  • genome wide
  • copy number
  • high resolution
  • gene expression
  • hiv testing