Tag Archives: Haplotype

CFTR haplotype phasing using long-read genome sequencing from ultra-low input DNA

January 2025 Authors: Neeru Gandotra, Antariksh Tyagi, Irina Tikhonova, Caroline Storer, Curt Scharfe Abstract: “Purpose: Newborn screening (NBS) identifies rare diseases that result from the recessive inheritance of pathogenic variants in both copies of a gene. Long-read genome sequencing (LRS) … more »

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