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Wolfgang Haak

dblp:404/8471 · DBLP profile ↗
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1ranked-venue papers
0as first author
1since 2021 · last 2026
—ORCID · unresolved

Domains — the database's venue-derived domains; a paper can count in several

Applied, interdisciplinary, general and emerging computing · 1 · 1 since 2021

Expertise — from the expertise taxonomy: the topics of the expert's papers under the CCF categories. A weight counts papers with recency: 1 for a paper about the topic, 0.3 when the topic is its context, halved every five years.

Interdisciplinary, comprehensive, and emerging computing
1 paper
Bioinformatics and computational biology · 100%
Artificial intelligence
1 paper
Probabilistic and Bayesian machine learning · 100%

Topics — the 3 heaviest of 4, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › molecular evolution › evolutionary bioinformatics
ancient DNA analysis
1.012026
ChASM: a statistically rigorous method for the detection of chromosomal aneuploidies in ancient DNA studies · Bioinform. 2026
Bioinformatics and computational biology › clinical bioinformatics
aneuploidy detection
1.012026
ChASM: a statistically rigorous method for the detection of chromosomal aneuploidies in ancient DNA studies · Bioinform. 2026
Machine learning › Probabilistic and Bayesian machine learning › statistical inference
bayesian inference
0.312026
ChASM: a statistically rigorous method for the detection of chromosomal aneuploidies in ancient DNA studies · Bioinform. 2026

Methods — techniques the papers use, named apart from their topics

read count analysis · 2.0bayesian inference · 2.0
YearPublicationVenuePosition
2026 ChASM: a statistically rigorous method for the detection of chromosomal aneuploidies in ancient DNA studies
abstract
MOTIVATION: How individuals with conditions, disabilities or abnormalities were treated gives us valuable insights into past societies. Chromosomal aneuploidies, the presence of an abnormal number of copies of the chromosomes, represent the most common large-scale chromosomal abnormalities in human populations. Chromosomal aneuploidies can affect autosomal chromosomes (e.g. Down syndrome) as well as the sex chromosomes (e.g. Klinefelter syndrome), with physical manifestations ranging from mild to severe. While simple to identify genetically, chromosomal aneuploidies are difficult to diagnose from skeletal remains alone, as they present skeletal pathologies consistent with many other conditions. RESULTS: Here we present ChASM (Chromosomal Aneuploidy Screening Methodology), a statistically rigorous Bayesian method for detecting full autosomal and sex chromosomal aneuploidies. The method leverages chromosome-wise read counts and takes into account differences in sequencing methodology, genetic coverage and condition rarity to produce posterior probability estimates for the screening of small and large databases of sequence data. AVAILABILITY AND IMPLEMENTATION: To facilitate the ease of use, ChASM has been implemented in R as the package RChASM. RChASM is available under MIT license on the Comprehensive R Archive Network.
Adam B. Rohrlach, Simon Jonathan Tuke, Kay Prüfer, Wolfgang Haak
Bioinform.4