148 citations · 278 across the 2 of their papers we have counts for
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q-bio.GN2023★ 130 cited
Beyond the exome: what's next in diagnostic testing for Mendelian conditions
Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha +21
Despite advances in clinical genetic testing, including the introduction of exome sequencing (ES), more than 50% of individuals with a suspected Mendelian condition lack a precise…
q-bio.GN2011★ 148 cited
Non-alignment comparison of human and high primate genomes
V. M. Kirzhner, S. Frenkel, A. B. Korol
Compositional spectra (CS) analysis based on k-mer scoring of DNA sequences was employed in this study for dot-plot comparison of human and primate genomes. The detection of extend…