CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA

CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA

Purpose: Newborn screening identifies rare diseases that result from the recessive inheritance of pathogenic variants in both copies of a gene. Long-read genome sequencing (LRS) is used for identifying and phasing genomic variants, but further efforts are needed to develop LRS for applications using...

Ausführliche Beschreibung

Bibliographische Detailangaben
Hauptverfasser:	Neeru Gandotra, Antariksh Tyagi, Irina Tikhonova, Caroline Storer, Curt Scharfe
Format:	Artikel
Sprache:	English
Veröffentlicht:	Elsevier 2025-01-01
Schriftenreihe:	Genetics in Medicine Open
Schlagworte:	Cystic fibrosis Dried blood spots Haplotype phasing Long-read sequencing Newborn screening
Online Zugang:	http://www.sciencedirect.com/science/article/pii/S2949774425000019

Ähnliche Einträge

Racial inequities and rare CFTR variants: Impact on cystic fibrosis diagnosis and treatment
von: Malinda Wu, et al.
Veröffentlicht: (2024-06-01)

Analysis of extra- and intragenic marker haplotypes as part of molecular diagnosis of cystic fibrosis in patients from Serbia
von: Radivojević Danijela, et al.
Veröffentlicht: (2008-01-01)

International Approaches to Management of CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis
von: Jane Chudleigh, et al.
Veröffentlicht: (2022-01-01)

phasebook: haplotype-aware de novo assembly of diploid genomes from long reads
von: Xiao Luo, et al.
Veröffentlicht: (2021-10-01)

Haplotype-aware diplotyping from noisy long reads
von: Jana Ebler, et al.
Veröffentlicht: (2019-06-01)

Cystic Fibrosis and Oxidative Stress: The Role of CFTR
von: Evelina Moliteo, et al.
Veröffentlicht: (2022-08-01)

HapCHAT: adaptive haplotype assembly for efficiently leveraging high coverage in long reads
von: Stefano Beretta, et al.
Veröffentlicht: (2018-07-01)

Molecular Mechanism of Action of Trimethylangelicin Derivatives as CFTR Modulators
von: Onofrio Laselva, et al.
Veröffentlicht: (2018-07-01)

Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome
von: Mohini A. Gunnett, et al.
Veröffentlicht: (2023-03-01)

HAHap: a read-based haplotyping method using hierarchical assembly
von: Yu-Yu Lin, et al.
Veröffentlicht: (2018-10-01)

Editorial: Functional Characterization and Pharmaceutical Targets in Common and Rare CFTR Dysfunctions
von: Elena K. Schneider-Futschik, et al.
Veröffentlicht: (2022-01-01)

Triplet CFTR modulators: future prospects for treatment of cystic fibrosis
von: Chaudary N
Veröffentlicht: (2018-12-01)

Is CFTR an exchanger?: Regulation of HCO3−Transport and extracellular pH by CFTR
von: Marija K. Massey, et al.
Veröffentlicht: (2021-03-01)

Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade
von: Amin Hosseini Nami, et al.
Veröffentlicht: (2023-05-01)

Two years of newborn screening for cystic fibrosis in Turkey: Çukurova experience
von: Ayşe Şenay Şaşihüseyinoğlu, et al.
Veröffentlicht: (2019-08-01)

Racially equitable diagnosis of cystic fibrosis using next-generation DNA sequencing: a case report
von: Bennett O. V. Shum, et al.
Veröffentlicht: (2021-03-01)

Inhibiting CFTR through inh-172 in primary neutrophils reveals CFTR-specific functional defects
von: Ana Lúcia Da Silva Cunha, et al.
Veröffentlicht: (2024-12-01)

Hap10: reconstructing accurate and long polyploid haplotypes using linked reads
von: Sina Majidian, et al.
Veröffentlicht: (2020-06-01)

Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders
von: Alice Castaldo, et al.
Veröffentlicht: (2020-08-01)

Communication of carrier status information following universal newborn screening for sickle cell disorders and cystic fibrosis: qualitative study of experience and practice
von: J Kai, et al.
Veröffentlicht: (2009-11-01)

'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations
von: Knowles Michael R, et al.
Veröffentlicht: (2001-08-01)

Combined CFTR modulator therapies are linked with anabolic benefits and insulin-sparing in cystic fibrosis-related diabetes
von: Fabian Lurquin, et al.
Veröffentlicht: (2023-09-01)

Editorial: Real-world experience with CFTR modulator therapy
von: Burkhard Tümmler, et al.
Veröffentlicht: (2023-11-01)

Eligibility of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator therapies: cohort of cystic fibrosis registry of Türkiye
von: Meltem Akgül Erdal, et al.
Veröffentlicht: (2025-02-01)

Strainline: full-length de novo viral haplotype reconstruction from noisy long reads
von: Xiao Luo, et al.
Veröffentlicht: (2022-01-01)

Genetic diversity and haplotype analysis of cattle hydatid cyst isolates using mitochondrial markers in Kazakhstan
von: Rabiga Uakhit, et al.
Veröffentlicht: (2024-04-01)

Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor—Ivacaftor
von: Burkhard Tümmler, et al.
Veröffentlicht: (2023-03-01)

CF-like lung disease associated with CFTR splicing variant
von: Haston Christina, et al.
Veröffentlicht: (2000-12-01)

Investigating the role of CFTR in human and mouse myometrium
von: Clodagh Prendergast, et al.
Veröffentlicht: (2024-01-01)

Diagnosis of Cystic Fibrosis Beyond Childhood in India
von: Priyanka Medhi, et al.
Veröffentlicht: (2024-04-01)

Consequences of CRISPR-Cas9-Mediated CFTR Knockout in Human Macrophages
von: Shuzhong Zhang, et al.
Veröffentlicht: (2020-08-01)

Unity Is Strength: The Mutual Alliance between CFTR and SLC26A6 as Therapeutic Opportunity in Cystic Fibrosis
von: Marilena Pariano, et al.
Veröffentlicht: (2024-03-01)

CFTR Modulator Therapy for Rare CFTR Mutants
von: Marco Mergiotti, et al.
Veröffentlicht: (2022-04-01)

Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen
von: David J. McBride, et al.
Veröffentlicht: (2023-09-01)

Newborn Screening Program for Cystic Fibrosis in Cuba: Three Years’ Experience
von: Elisa M. Castells, et al.
Veröffentlicht: (2023-06-01)

Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor–Tezacaftor–Ivacaftor
von: Payal Patel, et al.
Veröffentlicht: (2023-02-01)

Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies
von: Ana Marcão, et al.
Veröffentlicht: (2018-06-01)

Five cases of missed cystic fibrosis heterozygous mutations identified after a positive newborn screen on a sibling
von: Khaleel Qussous, et al.
Veröffentlicht: (2022-01-01)

Molecular analysis of cystic fibrosis patients in Hungary: An update to the mutational spectrum
von: Ivády Gergely, et al.
Veröffentlicht: (2015-01-01)

Regulatory crosstalk by protein kinases on CFTR trafficking and activity
von: Carlos Miguel eFarinha, et al.
Veröffentlicht: (2016-01-01)