P668: Assessing the utility of long-read genome sequencing in rare pediatric disorders

P668: Assessing the utility of long-read genome sequencing in rare pediatric disorders

Saved in:

Bibliographic Details
Main Authors:	Liz Werren, Purva Vats, Gabriel Rech, Cameron King, Michael Peracchio, Elizabeth Charnysh, Peter Audano, Peter Robinson, Louisa Kalsner, Adam Matson, Melissa Kelly, Mark Adams
Format:	Article
Language:	English
Published:	Elsevier 2025-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774425010763
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Proteomic Analysis of <i>Bifidobacterium animalis</i> AR668 and AR668-R1 Under Aerobic Culture
by: Yaping Liu, et al.
Published: (2025-05-01)

Síndrome do túnel do carpo: aspectos clínico-epidemiológicos em 668 casos Carpal tunnel syndrome: clinical and epidemiological studies in 668 cases
by: JOÃO ARIS KOUYOUMDJIAN
Published: (1999-06-01)

تراسلُ الحواسِّ في شعرِ الشَّابِّ الظريفِ (ت668ه)
by: م.م. ملبي فتحي احمد
Published: (2025-03-01)

Carpal tunnel syndrome: clinical, epidemiological and nerve conduction studies in 668 cases
by: JOÃO ARIS KOUYOUMDJIAN
Published: (1998-12-01)

Physiological mouse brain Abeta levels are not related to the phosphorylation state of threonine-668 of Alzheimer's APP.
by: Yoshitake Sano, et al.
Published: (2006-12-01)

Duration of symptomatology and median segmental sensory latency in 993 carpal tunnel syndrome hands (668 cases)
by: KOUYOUMDJIAN JOAO ARIS
Published: (1999-01-01)

MicroRNA-668 alleviates renal fibrosis through PPARα/PGC-1α pathway
by: Xinran Wang, et al.
Published: (2024-12-01)

Clinical features and outcomes of patients with acute myeloid leukemia: the single-center experience of 668 patients in China
by: Jie Ding, et al.
Published: (2024-12-01)

Impact of Gender, Age, and Obesity on Childhood Obstructive Sleep Apnea: A Cross-Sectional Study of 4,668 Children
by: Huang G, et al.
Published: (2025-06-01)

circZNF707 promoted glycolysis and tumor progression through miR-668-3p-PFKM axis in NSCLC
by: Wei Chen, et al.
Published: (2025-02-01)

WCN24-668 ROLE OF COAGULATION FACTORS IN BLEEDING AND THROMBOTIC EVENTS IN CKD AND THEIR CORRELATION WITH CONVENTIONAL AND SONOCLOT PARAMETERS IN HAEMODIALYSIS PATIENTS
by: Smita Divyaveer, et al.
Published: (2024-04-01)

Long-Read Sequencing and Structural Variant Detection: Unlocking the Hidden Genome in Rare Genetic Disorders
by: Efthalia Moustakli, et al.
Published: (2025-07-01)

O52: Diagnostic benefits of long-read genome sequencing for short-read negative rare disease cases
by: Alan Beggs, et al.
Published: (2025-01-01)

Abnormal expression of miR-668-3p in non-small cell lung cancer patients and its correlation with serum-related tumor markers
by: Wen Yang, et al.
Published: (2025-01-01)

Naomi Klein, 2008, La stratégie du choc. La montée d’un capitalisme du désastre, Toronto : Léméac/Actes Sud, 668 p.
by: Stéphane Callens
Published: (2009-01-01)

Single cell and spatial alternative splicing analysis with Nanopore long read sequencing
by: Yuntian Fu, et al.
Published: (2025-07-01)

Long-read sequencing for diagnosis of genetic myopathies
by: Gianina Ravenscroft, et al.
Published: (2025-05-01)

Complete sequence of the Achillea ptarmica chloroplast genome determined by long-read sequencing
by: Hiroki Natsume, et al.
Published: (2025-08-01)

READING THE WRITING ON THE WALL: DISCOVERING NEW DIMENSIONS TO THE ANTONINE WALL DISTANCE STONES
by: Louisa Campbell
Published: (2020-07-01)

Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases
by: Shruti Sinha, et al.
Published: (2025-03-01)

Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes
by: Iftekhar A. Showpnil, et al.
Published: (2024-12-01)

Síndrome do túnel do carpo: correlação da comparação de latência sensitiva mediano-radial com condução nervosa rotina em 1059 mãos (668 casos)
by: JOÃO ARIS KOUYOUMDJIAN
Published: (1999-06-01)

Long-read genome sequencing reveals the sequence characteristics of pear self-incompatibility locus
by: Chao Gu, et al.
Published: (2025-03-01)

Computational problems of analysis of short next generation sequencing reads
by: R. te Boekhorst, et al.
Published: (2017-02-01)

Aryana-bs: context-aware alignment of bisulfite-sequencing reads
by: Hassan Nikaein, et al.
Published: (2025-07-01)

Long-read sequencing is required for precision diagnosis of incontinentia pigmenti
by: Monica H. Wojcik, et al.
Published: (2025-07-01)

Dobzhansky-muller and wolbachia-induced incompatibilities in a diploid genetic system.
by: Arndt Telschow, et al.
Published: (2014-01-01)

Patterns of Reading Performance in Acute Stroke: A Descriptive Analysis
by: Lauren L. Cloutman, et al.
Published: (2010-01-01)

Long-read whole genome sequencing and comparative analysis of six strains of the human pathogen Orientia tsutsugamushi.
by: Elizabeth M Batty, et al.
Published: (2018-06-01)

The timing of spontaneous eye blinks in text reading suggests cognitive role
by: Xander Cornelis, et al.
Published: (2025-06-01)

Long-read sequencing to detect full-length protein–protein interactions
by: Stephanie Schaefer-Ramadan, et al.
Published: (2025-07-01)

Gene fusion detection in long-read transcriptome sequencing data with GFvoter
by: Xiaolan Zhao, et al.
Published: (2025-06-01)

The quality and detection limits of mitochondrial heteroplasmy by long read nanopore sequencing
by: Barbara Slapnik, et al.
Published: (2024-11-01)

Whole-genome sequencing and assembly with high-throughput, short-read technologies.
by: Andreas Sundquist, et al.
Published: (2007-05-01)

Targeted sequencing analysis pipeline for species identification of human pathogenic fungi using long-read nanopore sequencing
by: Nattapong Langsiri, et al.
Published: (2023-09-01)

Erratum to "Comparison of immune responses and intestinal flora in epicutaneously sensitized BALB/c or C57BL/6 mouse models of food allergy" [Food Science and Human Wellness 13 (2024) 668-680]
by: Gang Yu, et al.
Published: (2025-01-01)

Lexical Processing Strongly Affects Reading Times But Not Skipping During Natural Reading
by: Micha Heilbron, et al.
Published: (2023-09-01)

Colin Darch & David Hedges (eds). Samora Machel: leader and liberator in Southern Africa. Cape Town: Human Sciences Research Council Press, 2024, 454 pp. ISBN: 978-0-79692-668-5.
by: Suleiman Yakubu
Published: (2024-12-01)

Genetic analysis using long-read sequencing to overcome the difficulties in VWF gene
by: Sheng Ye, et al.
Published: (2025-05-01)

Constructing a draft Indian cattle pangenome using short-read sequencing
by: Sarwar Azam, et al.
Published: (2025-04-01)