Sabrina Schulz

TL;DR: Comparisons indicate that fosmid-based haplotyping can deliver highly accurate results even at low coverage and that the proposed SIH algorithm, ReFHap, is able to efficiently produce high-quality haplotypes.

TL;DR: The most complete haplotype-resolved genome to date, "Max Planck One" (MP1), is generated by fosmid pool-based next generation sequencing, providing the foundation to understand that the distinction of molecular haplotypes is essential to resolve the (inherently individual) biology of genes, genomes, and disease.

TL;DR: In this paper, a 100k genome-wide association study with 83,360 singlenucleotide polymorphisms (SNPs) was performed on 382 Crohn's disease (CD) patients, 398 SA patients, and 394 control individuals.

TL;DR: This study demonstrates that the combined analysis of different, albeit clinically related, phenotypes can lead to the identification of common susceptibility loci in Crohn's disease and sarcoidosis.

TL;DR: This work identifies key features characterizing the diplotypic nature of human genomes and provides a conceptual and analytical framework, rich resources and novel hypotheses on the functional importance of diploidy.