Fritz J Sedlazeck

Jan 6, 2025 | digitalcommons.library.tmc.edu | Fengju Chen |Yiqun Zhang |Fritz J Sedlazeck |Chad J. Creighton

KeywordsHumans, Transcriptome, Neoplasms, RNA, Germ Cells, cancer, structural variation, structural variants, germline, PCAWG, Pan-Cancer Analysis of Whole Genomes, Whole Genome Sequencing, GWAS, eQTL, expression quantitative trait lociAbstractGermline variation and somatic alterations contribute to the molecular profile of cancers. We combine RNA with whole genome sequencing across 1,218 cancer patients to determine the extent germline structural variants (SVs) impact expression of nearby genes.

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.

Apr 14, 2023 | nature.com | Nathan Olson |Fritz J Sedlazeck

AbstractGenetic variant calling from DNA sequencing has enabled understanding of germline variation in hundreds of thousands of humans. Sequencing technologies and variant-calling methods have advanced rapidly, routinely providing reliable variant calls in most of the human genome.