Evidence map›Paper›PMID 42036727›Full record

ArticleHuman genomics2026

Genetic variants identification through whole-genome sequencing based on dried blood spots in 92 Chinese children with Autism.

Lulu Wang, Haixin Li, Yuqi Yang, Bin Zhang, Bin Yu

Abstract read
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In one paragraph

Article in Human genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Lulu Wang *Department of Medical Genetics, Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, No. 16 DingXiang Road, Changzhou, 213003, Jiangsu, China.
Haixin Li *Department of Child Group Healthcare, Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, Changzhou, 213003, Jiangsu, China.
Yuqi YangDepartment of Medical Genetics, Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, No. 16 DingXiang Road, Changzhou, 213003, Jiangsu, China.
Bin ZhangDepartment of Medical Genetics, Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, No. 16 DingXiang Road, Changzhou, 213003, Jiangsu, China. binzhang@njmu.edu.cn.
Bin YuDepartment of Medical Genetics, Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, No. 16 DingXiang Road, Changzhou, 213003, Jiangsu, China. binyu@njmu.edu.cn.

Funding

the Major Science and Technology Project of Changzhou Municipal Health Commission ZD202326the Major Science and Technology Project of Changzhou Municipal Health Commission ZD202418the Medical Technology Research Projects of Changzhou Maternal and Child Health Care Hospital YJ202411the Medical Technology Research Projects of Changzhou Maternal and Child Health Care Hospital YJ202501the Project Funding for the Training of High-level Health Professionals in Changzhou 2022CZZY007the Science and Technology Development Fund Project of Nanjing Medical University NMUB20250164the Top Talent of Changzhou 'The 14th Five‑Year Plan' High‑Level Health Talents Training Project 2022CZBJ089
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorder with high heterogeneity. We hence to investigate the genetic etiology of ASD and the potential of whole-genome sequencing (WGS) from dried blood spots for the presymptomatic risk assessment. Total 92 individuals diagnosed with ASD were recruited to identify the genetic etiologies of ASD using WGS of newborn dried blood spots. Variants were verified with a minigene splicing assay and the construction of three-dimensional protein models. Overall, a positive molecular diagnosis was obtained for 10 cases, a rate of 10.87%. Among the 10 cases, five cases (50.0%, 5/10) were identified with likely pathogenic exon-level CNVs, two cases (20.0%, 2/10) were identified with pathogenic large CNVs, one case (10%, 1/10) was identified with the chromosomal translocation t(8;9)(q13.3;q21.13), and 2 cases (20.0%, 2/10) were identified with likely pathogenic SNVs/Indels. Total 245 variants of 173 genes were classified as "VUS". Further functional analysis showed that one splicing variant were predicted to generate a truncated protein. Our study demonstrated the utility of WGS derived from dried blood spots for identifying ASD-associated risk genes and variants. The introduction of ASD to the newborn genetic screening should be considered, which may facilitate presymptomatic risk identification and enable earlier, more personalized interventions for high-risk infants.

Indexed as

Autism Spectrum DisorderAutistic DisorderDried Blood Spot TestingWhole Genome SequencingChildChild, PreschoolDNA Copy Number VariationsEast Asian PeopleFemaleGenetic Predisposition to DiseaseHumansInfant, NewbornMaleAutism spectrum disorderDried blood spotEarly diagnosisGenetic diagnosisWhole genome sequencing

Identifiers

PMID42036727
PMCPMC13386625

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