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