Karen H Miga

Feb 3, 2024 | nature.com | Karen H Miga |William Noble

AbstractFluorescent in situ hybridization (FISH) is a powerful method for the targeted visualization of nucleic acids in their native contexts. Recent technological advances have leveraged computationally designed oligonucleotide (oligo) probes to interrogate > 100 distinct targets in the same sample, pushing the boundaries of FISH-based assays.

Nov 2, 2023 | cell.com | Karen H Miga |Evan E. Eichler

SummaryAdvances in long-read sequencing and assembly now mean that individual labs can generate phased genomes that are more accurate and more contiguous than the original human reference genome. With declining costs and increasing democratization of technology, we suggest that complete genome assemblies, where both parental haplotypes are phased telomere to telomere, will become standard in human genetics.

Sep 14, 2023 | nature.com | Mikhail Kolmogorov |Kimberley Billingsley |Mira Mastoras |Melissa Meredith |Ramita Dewan |Kensuke Daida | +13 more

AbstractLong-read sequencing technologies substantially overcome the limitations of short-reads but have not been considered as a feasible replacement for population-scale projects, being a combination of too expensive, not scalable enough or too error-prone. Here we develop an efficient and scalable wet lab and computational protocol, Napu, for Oxford Nanopore Technologies long-read sequencing that seeks to address those limitations.

Aug 23, 2023 | nature.com | Arang Rhie |Savannah Hoyt |Dylan Taylor |Nicolas Altemose |Paul W. Hook |Sergey Koren | +37 more

AbstractThe human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure that includes long palindromes, tandem repeats and segmental duplications1,2,3. As a result, more than half of the Y chromosome is missing from the GRCh38 reference sequence and it remains the last human chromosome to be finished4,5.