[Clinical phenotype and genetic analysis of a rare case with 6p duplication and terminal deletion syndrome].

Objective: To explore the genetic basis for a child with developmental delay and intellectual deficit (DD/ID).

Methods: A child who was admitted to the Maternal and Child Health Care Hospital of Longhua District of Shenzhen City on June 3, 2023 due to DD/ID, craniofacial malformations, and recurrent infections of upper respiratory tract was selected as the study subject. G-banded chromosomal karyotyping was carried out for the child and her parents.

ASMF: Ambient social media forensics chain of custody with an intelligent digital investigation process using federated learning.

Ambient Intelligence is a concept that relates to a new paradigm of pervasive computing and has the objective of automating responses from the system to humans without any human intervention. In social media forensics, gathering, analyzing, storing, and validating relevant evidence for investigation in a heterogeneous environment is still questionable. There is no hierarchy for automation, even though standardization and secure processes from data collection to validation have not yet been discussed.

Polygenic associations and causal inferences between serum immunoglobulins and amyotrophic lateral sclerosis.

Background: Due to the limitations like reverse causation and residual confounding commonly seen in the observational studies, the relationship between serum immunoglobulins and amyotrophic lateral sclerosis (ALS) remains unclear.

Methods: Summary statistics from large-scale genome-wide association studies (GWAS) among European ancestry populations (~15,000 individuals for serum immunoglobulins, and more than 36,000 individuals for ALS) were accessed and used in the discovery and replication phase, respectively. Polygenic risk score analysis was performed to test the polygenic association, and Mendelian randomization analysis was used to infer the causality.