DELLY: structural variant discovery by integrated paired-end and split-read analysis

T Rausch, T Zichner, A Schlattl, AM Stütz… - …, 2012 - academic.oup.com
Abstract Motivation: The discovery of genomic structural variants (SVs) at high sensitivity and
specificity is an essential requirement for characterizing naturally occurring variation and for
understanding pathological somatic rearrangements in personal genome sequencing data.

An integrated map of structural variation in 2,504 human genomes

…, B Raeder, EE Schadt, M Romanovitch, A Schlattl… - Nature, 2015 - nature.com
Structural variants are implicated in numerous diseases and make up the majority of varying
nucleotides among human genomes. Here we describe an integrated set of eight structural
variant classes comprising both balanced and unbalanced variants, which we constructed

Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions

A Schlattl, S Anders, SM Waszak, W Huber… - Genome …, 2011 - genome.cshlp.org
Abstract Copy-number variants (CNVs) form an abundant class of genetic variation with a
presumed widespread impact on individual traits. While recent advances, such as the
population-scale sequencing of human genomes, facilitated the fine-scale mapping of

[HTML][HTML] The baker's yeast diploid genome is remarkably stable in vegetative growth and meiosis

…, W Wei, E Mancera, JL Argueso, A Schlattl… - PLoS …, 2010 - journals.plos.org
Abstract Accurate estimates of mutation rates provide critical information to analyze genome
evolution and organism fitness. We used whole-genome DNA sequencing, pulse-field gel
electrophoresis, and comparative genome hybridization to determine mutation rates in

[HTML][HTML] Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity

…, I Keydar, M Khen, AM Stütz, A Schlattl… - PLoS computational …, 2010 - journals.plos.org
Abstract Copy-number variations (CNVs) are widespread in the human genome, but
comprehensive assignments of integer locus copy-numbers (ie, copy-number genotypes)
that, for example, enable discrimination of homozygous from heterozygous CNVs, have

A Novel RAF Kinase Inhibitor with DFG-Out–Binding Mode: High Efficacy in BRAF-Mutant Tumor Xenograft Models in the Absence of Normal Tissue Hyperproliferation

…, G Bader, O Schaaf, P Garin-Chesa, A Schlattl… - Molecular cancer …, 2016 - AACR
Abstract BI 882370 is a highly potent and selective RAF inhibitor that binds to the DFG-out
(inactive) conformation of the BRAF kinase. The compound inhibited proliferation of human
BRAF–mutant melanoma cells with 100× higher potency (1–10 nmol/L) than vemurafenib,

Novel non-canonical role of STAT1 in natural killer cell cytotoxicity

…, EM Zebedin-Brandl, DA Fux, A Schlattl… - …, 2016 - Taylor & Francis
ABSTRACT STAT1 is an important regulator of NK cell maturation and cytotoxicity. Although
the consequences of Stat1-deficiency have been described in detail the underlying
molecular functions of STAT1 in NK cells are only partially understood. Here, we describe a

A common microdeletion affecting a hippocampus‐and amygdala‐specific isoform of tryptophan hydroxylase 2 is not associated with affective disorders

…, AM Stütz, S Heilmann, SM Waszak, A Schlattl… - Bipolar …, 2014 - Wiley Online Library
Objectives Copy number variants (CNVs) have been shown to affect susceptibility for
neuropsychiatric disorders. To date, studies implicating the serotonergic system in complex
conditions have just focused on single nucleotide polymorphisms (SNPs). We therefore

Synthetic lethality between the cohesin subunits STAG1 and STAG2 in diverse cancer contexts

…, J Jude, G Wutz, CP Santos, K Falkenberg, A Schlattl… - Elife, 2017 - elifesciences.org
Abstract Recent genome analyses have identified recurrent mutations in the cohesin
complex in a wide range of human cancers. Here we demonstrate that the most frequently
mutated subunit of the cohesin complex, STAG2, displays a strong synthetic lethal

[CITATION][C] Assessing the Extent and Impact of Genomic Structural Sequence Variants

A Schlattl - 2012