Frontiers in Genetics | Genomic Assay Technology

Original Research

Published on 27 Sep 2023

Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls

in Genomic Assay Technology

Line Dahl Jeppesen
Lotte Hatt
Ripudaman Singh
Palle Schelde
Katarina Ravn
Christian Liebst Toft
Maria Bach Laursen
Jakob Hedegaard
Inga Baasch Christensen
Bolette Hestbek Nicolaisen

Frontiers in Genetics

doi 10.3389/fgene.2023.1188472

5,153 views

Editorial

Published on 11 Sep 2023

Editorial: Emerging talents in genomic assay technology

in Genomic Assay Technology

Honey V. Reddi
Youri I. Pavlov

Frontiers in Genetics

doi 10.3389/fgene.2023.1259011

1,004 views

Original Research

Published on 04 Sep 2023

Analysis of chromosomal structural variations in patients with recurrent spontaneous abortion using optical genome mapping

in Genomic Assay Technology

Huihua Rao
Haoyi Zhang
Yongyi Zou
Pengpeng Ma
Tingting Huang
Huizhen Yuan
Jihui Zhou
Wan Lu
Qiao Li
Shuhui Huang

Frontiers in Genetics

doi 10.3389/fgene.2023.1248755

4,376 views
2 citations

Original Research

Published on 02 Aug 2023

When NIPT meets WES, prenatal diagnosticians face the dilemma: genetic etiological analysis of 2,328 cases of NT thickening and follow-up of pregnancy outcomes

in Genomic Assay Technology

Xueqi Ji
Qiongmei Li
Yiming Qi
Xingwang Wang
Hongke Ding
Jian Lu
Yan Zhang
Aihua Yin

Frontiers in Genetics

doi 10.3389/fgene.2023.1227724

4,392 views
6 citations

Methods

Published on 29 Jun 2023

Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions

in Genomic Assay Technology

Chiara Frascarelli
Nadia Zanetti
Alessia Nasca
Rossella Izzo
Costanza Lamperti
Eleonora Lamantea
Andrea Legati
Daniele Ghezzi

Frontiers in Genetics

doi 10.3389/fgene.2023.1089956

11,187 views
17 citations

Methods

Published on 14 Jun 2023

Validation of a targeted gene panel sequencing for the diagnosis of hereditary chronic liver diseases

in Genomic Assay Technology

Luisa Ronzoni
Ilaria Marini
Giulia Passignani
Francesco Malvestiti
Daniele Marchelli
Cristiana Bianco
Serena Pelusi
Daniele Prati
Luca Valenti

Frontiers in Genetics

doi 10.3389/fgene.2023.1137016

2,237 views
2 citations

Editorial

Published on 12 Jun 2023

Editorial: Application of meta-omics in biotechnology, environmental monitoring, and health

in Genomic Assay Technology

Grace Nkechinyere Ijoma

Frontiers in Genetics

doi 10.3389/fgene.2023.1229830

1,174 views

Editorial

Published on 30 May 2023

Editorial: Microsatellite and microsatellite instability

in Genomic Assay Technology

Alexandre How-Kit
Kai Ye

Frontiers in Genetics

doi 10.3389/fgene.2023.1189212

1,971 views

Review

Published on 26 May 2023

Silage maize as a potent candidate for sustainable animal husbandry development—perspectives and strategies for genetic enhancement

in Genomic Assay Technology

Krishna Sai Karnatam
Bikkasani Mythri
Wajhat Un Nisa
Heena Sharma
Tarun Kumar Meena
Prabhat Rana
Yogesh Vikal
M. Gowda
Baldev Singh Dhillon
Surinder Sandhu

Frontiers in Genetics

doi 10.3389/fgene.2023.1150132

8,969 views
15 citations

Original Research

Published on 25 May 2023

Chromosome-scale assembly and quantitative trait locus mapping for major economic traits of the Culter alburnus genome using Illumina and PacBio sequencing with Hi-C mapping information

in Genomic Assay Technology

Shili Liu
Jianbo Zheng
Fei Li
Meili Chi
Shun Cheng
Wenping Jiang
Yinuo Liu
Zhimin Gu
Jinliang Zhao

Frontiers in Genetics

doi 10.3389/fgene.2023.1072506

2,037 views
3 citations

Original Research

Published on 21 Apr 2023

ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing

in Genomic Assay Technology

Ludmila Kaplun
Greice Krautz-Peterson
Nir Neerman
Christine Stanley
Shane Hussey
Margo Folwick
Ava McGarry
Shirel Weiss
Alexander Kaplun

Frontiers in Genetics

doi 10.3389/fgene.2023.1145285

9,449 views
5 citations

Original Research

Published on 08 Mar 2023

De novo assembly of a chromosome-level reference genome of the ornamental butterfly Sericinus montelus based on nanopore sequencing and Hi-C analysis

in Genomic Assay Technology

Jingjing Li
Haiyan Wang
Jianqing Zhu
Qi Yang
Yang Luan
Leming Shi
José Arturo Molina-Mora
Yuanting Zheng

Frontiers in Genetics

doi 10.3389/fgene.2023.1107353

3,917 views

Original Research

Published on 09 Feb 2023

Analytical validation and implementation of a pan cancer next-generation sequencing panel, CANSeqTMKids for molecular profiling of childhood malignancies

in Genomic Assay Technology

Kala F. Schilter
Brandon A. Smith
Qian Nie
Kathryn Stoll
Juan C. Felix
Jason A. Jarzembowski
Honey V. Reddi

Frontiers in Genetics

doi 10.3389/fgene.2023.1067457

2,635 views
2 citations

Mini Review

Published on 12 Jan 2023

Deep mutational scanning: A versatile tool in systematically mapping genotypes to phenotypes

in Genomic Assay Technology

Huijin Wei
Xianghua Li

Frontiers in Genetics

doi 10.3389/fgene.2023.1087267

18,809 views
24 citations

Mini Review

Published on 10 Jan 2023

Damage mapping techniques and the light they have shed on canonical and atypical UV photoproducts

in Genomic Assay Technology

Kaitlynne A. Bohm
John J. Wyrick

Frontiers in Genetics

doi 10.3389/fgene.2022.1102593

2,503 views
4 citations

Original Research

Published on 07 Dec 2022

Discovering novel reproductive genes in a non-model fly using de novo GridION transcriptomics

in Genomic Assay Technology

Mrinalini Walter
Nalini Puniamoorthy

Frontiers in Genetics

doi 10.3389/fgene.2022.1003771

2,013 views
2 citations

Navigation group

Articles

Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls

Editorial: Emerging talents in genomic assay technology

Analysis of chromosomal structural variations in patients with recurrent spontaneous abortion using optical genome mapping

When NIPT meets WES, prenatal diagnosticians face the dilemma: genetic etiological analysis of 2,328 cases of NT thickening and follow-up of pregnancy outcomes

Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions

Validation of a targeted gene panel sequencing for the diagnosis of hereditary chronic liver diseases

Editorial: Application of meta-omics in biotechnology, environmental monitoring, and health

Editorial: Microsatellite and microsatellite instability

Silage maize as a potent candidate for sustainable animal husbandry development—perspectives and strategies for genetic enhancement

Chromosome-scale assembly and quantitative trait locus mapping for major economic traits of the Culter alburnus genome using Illumina and PacBio sequencing with Hi-C mapping information

ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing

De novo assembly of a chromosome-level reference genome of the ornamental butterfly Sericinus montelus based on nanopore sequencing and Hi-C analysis

Analytical validation and implementation of a pan cancer next-generation sequencing panel, CANSeqTMKids for molecular profiling of childhood malignancies

Deep mutational scanning: A versatile tool in systematically mapping genotypes to phenotypes

Damage mapping techniques and the light they have shed on canonical and atypical UV photoproducts

Discovering novel reproductive genes in a non-model fly using de novo GridION transcriptomics