Results 191 to 200 of about 138,927 (255)

Treatment‐Free Remission in Chronic Myeloid Leukemia: Toward Precision and Personalized Approaches to Functional Cure

Cancer Science, EarlyView.
Immune surveillance of residual leukemic stem cells after tyrosine kinase inhibitor discontinuation involves coordinated NK‐cell, CTL, Treg, pDC, and neutrophil activity that predicts treatment‐free remission, while exhausted CTLs and Treg expansion predict relapse in chronic myeloid leukemia.
Hiroshi Ureshino, Shinya Kimura
wiley   +1 more source

Protocol for haplotype-resolved genome comparison and allele-specific expression analysis across multiple tissues and individuals. [PDF]

STAR Protoc
Shi C, Liu S.
europepmc   +1 more source

A next-generation sequencing approach for high-resolution S-locus genotyping in apricot. [PDF]

Sci Rep
Lora J, Torres A, Hormaza JI, Rodrigo J, Hedhly A.   +4 more
europepmc   +1 more source

Haplotype-based validation of genomic regions for breeding of new Nordic apples. [PDF]

Hereditas
Skytte Af Sätra J, Røen D, Haikonen T, Rumpunen K, Garkava-Gustavsson L, Hjeltnes SH.   +5 more
europepmc   +1 more source

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long‐Read Sequencing

Clinical Genetics, EarlyView.
Pathogenic IGF2 variants on the paternal allele can cause Silver–Russell syndrome, with highly variable growth and neurodevelopmental outcomes. Long‐read sequencing can determine the parental origin of de novo IGF2 variants via methylation patterns without parental samples, improving diagnostics for imprinted genes.
Trine Maxel Juul, Susanne Eriksen Boonen, Katja Venborg Pedersen, Caroline Hey Bækgaard, Martin Larsen, Maria Kibæk, Niels Illum, Malene Heideman, Christiane Nielsen, Emilie Boye Lester, Christina Fagerberg   +10 more
wiley   +1 more source

The clinical utility of exome sequencing for risk stratification in celiac disease. [PDF]

J Hum Immun
Asif T, Akalay M, Chung WK, Green PHR, Kong XF.   +4 more
europepmc   +1 more source

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next‐Generation Sequencing: Case Series of 70 Patients

Clinical Genetics, EarlyView.
Genetic hepatic cholestasis: NGS diagnostic yield. Over a 10‐year period, NGS (gene panel/WES) established a genetic diagnosis in 70% of 66 families with hepatic cholestasis, with a molecular yield of 62%. ABCB11 was the most mutated gene, and PFIC Type 2 was the leading diagnosis, underscoring the critical role of NGS in guiding genetic counseling and
Amal Abdmouleh, Houweyda Jilani, Imen Rejeb, Syrine Hizem, Nicolas Pottier, Romain Larrue, Wendy Arondal, Lucie Hanquet, Rania Benrabeh, Olfa Bouyahia, Sonia Mazigh, Yasmina Elaribi, Lamia Benjemaa   +12 more
wiley   +1 more source

The promise of long-read RNA-seq: reducing bias in analyses of allele imbalance. [PDF]

NAR Genom Bioinform
Nolte N, Petek M, Angulo Lara P, Mulroney L, Nicassio F, Marroni F, McIntyre L.   +6 more
europepmc   +1 more source

Beyond domestication: The unexpected contribution of native Musa wild relatives to cultivated banana diversity in Mainland Southeast Asia. [PDF]

PLoS One
Perrier X, Sachter-Smith G, Breton C, Rivallan R, Jacquemoud-Collet JP, Dubois C, Sardos J, Bakry F, Chabannes M, Lý NS, Haevermans T, Triệu TD, Insisiengmay O, Zhang T, Iskra-Caruana ML, Jenny C.   +15 more
europepmc   +1 more source

TMEM106B haplotypes show distinct associations with tau and TDP-43 pathologies in the aging brain

Salazar AN, Tesi N, van der Lee S, Koopmans F, Li KW, Rohde SK, Luimes MC, Rozemuller AJ, Smit AB, Hulsman M, Holstege H.   +10 more
europepmc   +1 more source