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The impact of parameter variation in the quantification of forensic genetic evidence.
Sci Rep
January 2025
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.
Technological advancements have allowed the detection of increasingly complex forensic genetics samples, as minimum amounts of DNA can now be detected in crime scenes or other settings of interest. The weight of the evidence depends on several parameters regarding the population and sample-related analytical factors, the latter in a greater number when the DNA amount is considered. This led to the development of probabilistic genotyping software (PGS), able to deal with the associated complexities.
View Article and Find Full Text PDFSpeech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.
J Inherit Metab Dis
January 2025
Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
CLN2 and CLN3 diseases, the most common types of Batten disease (also known as neuronal ceroid lipofuscinosis), are childhood dementias associated with progressive loss of speech, language and feeding skills. Here we delineate speech, language, non-verbal communication and feeding phenotypes in 33 individuals (19 females) with a median age of 9.5 years (range 3-28 years); 16 had CLN2 and 17 CLN3 disease; 8/15 (53%) participants with CLN2 and 8/17 (47%) participants with CLN3 disease had speech and language impairments prior to genetic diagnosis.
View Article and Find Full Text PDFThe (in)dependence of single-cell data inferences on model constructs.
Forensic Sci Int Genet
January 2025
Center for Computational and Integrative Biology, Rutgers University, Camden, NJ 08102, USA; Department of Computer Science, Rutgers University, Camden, NJ 08102, USA.
Recent developments in single-cell analysis have revolutionized basic research and have garnered the attention of the forensic domain. Though single-cell analysis is not new to forensics, the ways in which these data can be generated and interpreted are. Modern interpretation strategies report likelihood ratios that rely on a model of the world that is a simplification of it.
View Article and Find Full Text PDFTracking Somatic Mutations for Lineage Reconstruction.
Methods Mol Biol
January 2025
Department of Computer Science and Applied Mathematics, Weizmann Institute of Science, Rehovot, Israel.
The human genome is composed of distinct genomic regions that are susceptible to various types of somatic mutations. Among these, Short Tandem Repeats (STRs) stand out as the most mutable genetic elements. STRs are short repetitive polymorphic sequences, predominantly situated within noncoding sectors of the genome.
View Article and Find Full Text PDFTime to talk about stuttering: A cross-sectional study about the beliefs and attitude of adolescents toward stuttering.
J Fluency Disord
December 2024
Department of Speech-Language Pathology, Thomas More University of Applied Sciences, Sint-Andriesstraat 2, Antwerp 2000, Belgium. Electronic address:
Introduction: This study investigated the attitude of Belgian (Flemish) high school students of 15 years and older toward stuttering, compared them with international samples and evaluated the impact of an attitude program about stuttering.
Method: Nine schools participated in this study. The students completed the POSHA-S before and after the program.
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