Summary African genomes are marked by extensive complexity in the number and distribution of variants yet remain under-represented in genetic databases and the human reference genome. This gap in representation limits the broad application of genomic medicine. Sickle cell disease (SCD)—one of the most common monogenic...
Pamela D. Lurie, M. Mahmoud, Aparna Haldipur et al.· HGG advances· 0 citations
Rare diseases often remain unsolved because causal genetic changes can be complex and thus missed by standard sequencing or difficult to prioritize. Long-read sequencing can reveal structural variants, repeat expansions, DNA methylation and inherited haplotypes, but trio sequencing of an affected child and both paren...
Yilei Fu, A. English, L. Paulin et al.· Nature Communications· 0 citations
A variety of genomic rearrangement mechanisms contribute to copy number variations at the 17p11.2 locus driven in part by its complex genomic architecture which is characterized by low copy repeats (LCRs) and other repetitive elements, and genomic variations found in 11 families included simple copy number gains, highe...
Christopher M. Grochowski, Shruti A. Pande, Parneet Kaur et al.· American Journal of Medical...· 0 citations
The clinical spectrum of TUBB2B-related tubulinopathies is expanded, phenotypic heterogeneity is illustrated, and insights into disease mechanisms including effects at polyamination sites and rare recessive inheritance are provided, underscoring the need for nuanced genotype-phenotype interpretation in diagnostic and c...
Shaghayegh T Beheshti, Angad Jolly, Ahmed K Saad et al.· HGG advances· 0 citations
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