Evidence map›Paper›PMID 39325160›Full record

ArticleInternational journal of legal medicine2025

Screening a new set of microhaplotypes in exonic regions for sample identity testing and paternity testing during whole exome sequencing analysis.

Yu Tan, Huan Tian, Yuanyuan Xiao, Bocheng Xu, He Wang, Mei Yang, Shanling Liu

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Article in International journal of legal medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors.

Yu TanDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Huan TianDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Yuanyuan XiaoDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Bocheng XuDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
He WangDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Mei YangDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. yangmei03182016@163.com.ORCID http://orcid.org/0000-0002-6200-5865
Shanling LiuDepartment of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China. sunny630@126.com.

Funding

National Key Research and Development Program of China 2022YFC2703302
6 · The paper itself

Abstract

Whole exome sequencing (WES) is widely used in clinical diagnosis. Before obtaining an accurate diagnosis, it is essential to conduct sample identity testing and paternity testing on trio samples. Currently, there is a lack of optimal genetic markers for these purposes, with limited literature available in this area. Microhaplotypes (MHs) are promising genetic markers due to their high polymorphism, low mutation rate, short amplified fragments, absence of stutter and amplification bias. These characteristics make them suitable for sample tracking and paternity testing during WES analysis. In this study, we screened out a set of polymorphic MHs in exonic regions for the above purposes. The results showed that the power of discrimination (PD) and probability of exclusion (PE) of this set of markers ranged from 0.2682 to 0.8878 and 0.0178 to 0.4583, respectively. Both the cumulative power of discrimination (CPD) and cumulative probability of exclusion (CPE) exceeded 0.999999, indicating the great value of these markers in paternity testing and individual identification in the study population. However, these markers had the effective number of alleles (A

Indexed as

Exome SequencingExonsHaplotypesPaternityDNA FingerprintingFemaleGene FrequencyGenetic MarkersHumansMalePolymorphism, Single NucleotideGenetic MarkersIndividual identificationMicrohaplotypesPaternity testingWhole exome sequencing

Identifiers

PMID39325160

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