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Advanced filters: Author: Melanie Kirsche Clear advanced filters

Semi-automated assembly of high-quality diploid human reference genomes

Which combination of current genome sequencing and assembly approaches results in high-quality, complete diploid genome assemblies is determined.

Erich D. Jarvis
Giulio Formenti
Karen H. Miga
ResearchOpen Access19 Oct 2022
Nature

Volume: 611, P: 519-531
A diploid assembly-based benchmark for variants in the major histocompatibility complex

Accurate, phased assemblies are a key tool in understanding the human genome, particularly in highly polymorphic regions like the medically important MHC. Here the authors provide an assembly-based benchmark for this difficult-to-characterize region.

Chen-Shan Chin
Justin Wagner
Justin M. Zook
ResearchOpen Access22 Sept 2020
Nature Communications

Volume: 11, P: 1-9
Jasmine and Iris: population-scale structural variant comparison and analysis

An optimized pipeline for improved inference and analysis of structural variants (SVs) has been developed, which uses Iris for refining breakpoints and sequences, and Jasmine for comparing SV calls at population scale.

Melanie Kirsche
Gautam Prabhu
Michael C. Schatz
Research19 Jan 2023
Nature Methods

Volume: 20, P: 408-417
PDL1-expressing macrophages infiltrate diffuse large B-cell lymphoma and promote lymphoma growth in a MYC-driven experimental model

Ningxuan Cui
Peter Leary
Anne Müller
ResearchOpen Access16 Apr 2025
Blood Cancer Journal

Volume: 15, P: 1-15