Article
Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophrenia.
Neuron - 5 May 2021
Lencz Todd, Yu Jin, Khan Raiyan Rashid, Flaherty Erin, Carmi Shai, Lam Max, Ben-Avraham Danny, Barzilai Nir, Bressman Susan, Darvasi Ariel, Cho Judy H, Clark Lorraine N, Gümüş Zeynep H, Vijai Joseph, Klein Robert J, Lipkin Steven, Offit Kenneth, Ostrer Harry, Ozelius Laurie J, Peter Inga, Malhotra Anil K, Maniatis Tom, Atzmon Gil, Pe'er Itsik
Abstract excerpt
The identification of rare variants associated with schizophrenia has proven challenging due to genetic heterogeneity, which is reduced in founder populations. In samples from the Ashkenazi Jewish population, we report that schizophrenia cases had a greater frequency of novel missense or loss of function (MisLoF) ultra-rare variants (URVs) compared to controls, and the MisLoF URV burden was inversely correlated...
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