Evidence map›Paper›PMID 37667185›Full record

ArticleBMC genomics2023

A long-read sequencing and SNP haplotype-based novel preimplantation genetic testing method for female ADPKD patient with de novo PKD1 mutation.

Cuiting Peng, Han Chen, Jun Ren, Fan Zhou, Yutong Li, Yuezhi Keqie, Taoli Ding, Jiangxing Ruan, He Wang, Xinlian Chen and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
5.3field-weighted citation impact, top 4% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 17 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 2 institutions in 1 country.

Cuiting PengCenter of prenatal diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, No17, Section 3, South Renmin Road, Chengdu, China.
Han ChenCenter of prenatal diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, No17, Section 3, South Renmin Road, Chengdu, China.
Jun RenCenter of prenatal diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, No17, Section 3, South Renmin Road, Chengdu, China.
Fan ZhouCenter of prenatal diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, No17, Section 3, South Renmin Road, Chengdu, China.
Yutong LiCenter of prenatal diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, No17, Section 3, South Renmin Road, Chengdu, China.
Yuezhi KeqieCenter of prenatal diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, No17, Section 3, South Renmin Road, Chengdu, China.
Taoli DingYikon Genomics, Suzhou, China.
Jiangxing RuanYikon Genomics, Suzhou, China.
He WangCenter of prenatal diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, No17, Section 3, South Renmin Road, Chengdu, China.
Xinlian ChenCenter of prenatal diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, No17, Section 3, South Renmin Road, Chengdu, China. chenxinlian1121@163.com.
Shanling LiuCenter of prenatal diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, No17, Section 3, South Renmin Road, Chengdu, China. sunny630@126.com.
Sichuan University · CNWest China Second University Hospital of Sichuan University · CN

Funding

National Key Research and Development Program of China 2021YFC1005303
6 · The paper itself

Abstract

The autosomal dominant form of polycystic kidney disease (ADPKD) is the most common hereditary disease that causes late-onset renal cyst development and end-stage renal disease. Preimplantation genetic testing for monogenic disease (PGT-M) has emerged as an effective strategy to prevent pathogenic mutation transmission rely on SNP linkage analysis between pedigree members. Yet, it remains challenging to establish reliable PGT-M methods for ADPKD cases or other monogenic diseases with de novo mutations or without a family history. Here we reported the application of long-read sequencing for direct haplotyping in a female patient with de novo PKD1 c.11,526 G > C mutation and successfully established the high-risk haplotype. Together with targeted short-read sequencing of SNPs for the couple and embryos, the carrier status for embryos was identified. A healthy baby was born without the PKD1 pathogenic mutation. Our PGT-M strategy based on long-read sequencing for direct haplotyping combined with targeted SNP haplotype can be widely applied to other monogenic disease carriers with de novo mutation.

Indexed as

Polycystic Kidney, Autosomal DominantPreimplantation DiagnosisFemaleGenetic TestingHaplotypesHumansInfantMutationPolymorphism, Single NucleotidePregnancyADPKDDe novo mutationLong read sequencingPGT-MSNP haplotype

Identifiers

PMID37667185
PMCPMC10478289
OpenAlexW4386422148

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.