Associated Papers
Genome-wide profiling of highly similar paralogous genes using HiFi sequencing.
Chen X et al.
Nature Communications, 2025
40057485 (PubMed )
Supplement: 41467_2025_57505_MOESM3_ESM.xlsx › Supplementary_Data_2
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.
Alankarage D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.
Bamford RN et al.
Nature Genetics, 2000
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