Results 211 to 220 of about 383,646 (253)

Clinical Long-Read Sequencing Test for Genetic Disease Diagnosis.

JAMA Pediatr
Thiffault I, Farrow E, Barrett C, Scott M, Ross A, Means JC, Cheung WA, Johnson AF, Koseva B, McLennan R, Grundberg E, Bi C, Schwendinger-Schreck C, Yoo B, Johnston JJ, Del Viso F, Paolillo V, Herriges J, Zhang L, Gibson M, Cohen ASA, Alaimo J, Saunders CJ, Pastinen T.   +23 more
europepmc   +1 more source

Genomic characterization of Enterotoxigenic Escherichia coli lineage 2 (CS2 + CS3) by long-read sequencing reveals distinct lineage-specific genome organization. [PDF]

Sci Rep
Taheri N, Sjöling Å.
europepmc   +1 more source

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing. [PDF]

Brain
Erdmann H, Schaub A, Lucas MC, Scholz V, Benet-Pagès A, Becker K, Dineiger C, Mayer V, van Buren I, Breithausen E, Akbari K, Cordts I, Sauer M, Schneider C, Krakowsky R, Schnabel F, Dunker K, Fabritius L, Gerb J, Grabova D, Möhwald K, Näher M, Steinmetz K, Thiessen F, Jäck A, Schneider-Gold C, Zittel S, Petersen C, Schreyer I, Mämecke L, Wilfling S, Wunderlich G, Brenner D, Hellenbroich Y, Muhle K, Huchtemann T, Claus I, Klopstock T, Strupp M, Levin J, Höglinger GU, Huppert D, Becker-Bense S, Filippopulos F, Kilpert F, Leitão E, Kaya S, Depienne C, Schöberl F, Neuhann T, Holinski-Feder E, Zwergal A, Abicht A.   +52 more
europepmc   +1 more source

Cancer genome standards for long-read sequencing using cancer cell line mixtures. [PDF]

Gigascience
Zhang J, Wong HY, Liu L, Koufariotis LT, Wood S, Fitzpatrick N, Quiatchon J, Collins P, Pearson JV, Waddell N.   +9 more
europepmc   +1 more source

Sarcomeric remodelling in human heart failure unraveled by single molecule long read sequencing. [PDF]

EMBO Mol Med
Haas J, Schudy S, Rauscher B, Muñoz Verdú A, Roßkopf S, Reich C, Donmez Yalcin G, Yalcin A, Seeger T, Dieterich C, Taft MH, Freichel M, Grimm D, Manstein D, Backs J, Frey N, Steinmetz L, Meder B.   +17 more
europepmc   +1 more source

Landscape of Somatic and Age-Related Pathogenic Structural Variations in Hepatocellular Carcinoma Revealed by Long-Read Sequencing. [PDF]

MedComm (2020)
Wei Z, Cao Y, Liu H, Liu M, Zhang B, Ying J, Cai J, Bi X, Zhao J, Zhou J, Li Z, Huang Z, Liu J, Lv X, Luo Z, Wei Z, Zhang X, Yang Y, Deng Y, Yin Y, Chen J, Liang J, Wang X, Zhang Y, Zhao H.   +24 more
europepmc   +1 more source

Correction to "Long-Read Sequencing of CAH and ADPKD Provides Novel Insights Into the Genetic Diagnosis of Male Infertility". [PDF]

Reprod Med Biol
europepmc   +1 more source

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Genomics in the long-read sequencing era

Trends in Genetics, 2023
Long-read sequencing (LRS) technologies have provided extremely powerful tools to explore genomes. While in the early years these methods suffered technical limitations, they have recently made significant progress in terms of read length, throughput, and accuracy and bioinformatics tools have strongly improved.
Delphine Naquin, Claude Thermes
exaly   +4 more sources

Towards population-scale long-read sequencing [PDF]

Nature Reviews Genetics, 2021
Long-read sequencing technologies have now reached a level of accuracy and yield that allows their application to variant detection at a scale of tens to thousands of samples. Concomitant with the development of new computational tools, the first population-scale studies involving long-read sequencing have emerged over the past 2 years and, given the ...
Wouter De Coster, Matthias H Weissensteiner, Fritz J Sedlazeck   +2 more
exaly   +4 more sources