Results 191 to 200 of about 100,877 (263)

Application of Cell‐Free DNA Barcode‐Enabled Single‐Molecule Test for Non‐Invasive Prenatal Testing of α‐Thalassemia and β‐Thalassemia

Journal of Clinical Laboratory Analysis, EarlyView.
We evaluated the cfBEST assay for non‐invasive prenatal testing of α‐ and β‐thalassemia in 72 families. The assay correctly identified 88 of 93 fetal alleles, achieving an overall accuracy of 94.6%, a sensitivity of 94%, and a specificity of 95.35%, with 100% concordance with postnatal follow‐up.
Qin Liu, Na Ma, Wanglan Tang, Qianting Chen, Deguo Tang, Chunyan Zeng, Xiaofeng Wang, Hui Xi   +7 more
wiley   +1 more source

A Chromosome-Level Genome Assembly and Annotation of the Chinese Porcupine (<i>Hystrix hodgsoni</i>) Reveals the Expansion of Olfactory-Related Gene Families. [PDF]

Genes (Basel)
Chen N, Zhou J, Liu X, Jing M, Jiang L, Yang F.   +5 more
europepmc   +1 more source

DNA Extracted From Aged Formalin‐Fixed Paraffin‐Embedded Specimens of Patients With Papillary Thyroid Carcinomas Can Be Used for Whole Exome Sequencing

Journal of Clinical Laboratory Analysis, EarlyView.
We aimed to assess the quality of DNA extracted from long‐term stored FFPE specimens of patients with papillary thyroid carcinoma from three hospitals in Hiroshima and their applicability to whole exome sequencing. FFPE samples preserved for up to 55 years may be amenable to sequencing with increased read depth.
Kousuke Tanimoto, Tomonori Hayashi, Hidewaki Nakagawa, Kazuhiro Maejima, Koji Arihiro, Megumu Fujihara, Takashi Nishisaka, Masahiro Ito, Masahiro Nakashima, Naohiro Kato, Zhenqiu Liu, Misa Imaizumi, Alina Brenner, Stephen J. Chanock, Osamu Tanabe, Kotaro Ozasa   +15 more
wiley   +1 more source

Comparative Analysis Reveals the Adaptive Evolution of Olfactory System in the Swamp Eel (<i>Monopterus albus</i>) Based on the Chromosome-Level Genome. [PDF]

Ecol Evol
Zhou C, Wang Z, Zhang C, Song Z.
europepmc   +1 more source

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

Journal of Clinical Laboratory Analysis, EarlyView.
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada, Horacio Rivera, Luis E. Figuera, Patricio Barros‐Núñez, José Luis Castrillo, Carlos Córdova‐Fletes, Thania Alejandra Aguayo‐Orozco   +6 more
wiley   +1 more source

A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype. [PDF]

Clin Dysmorphol
Pakhathirathien P, Vaseenon H, Thammachote W, Songpatanasilp C, Sinpitak P, Tocharoentanaphol C, Jinawath N, Wattanasirichaigoon D.   +7 more
europepmc   +1 more source

The role of rare copy number variants in early‐onset depression

JCPP Advances, EarlyView.
Abstract Background Depression is a highly heterogeneous condition. Depression with an onset in childhood and early adolescence has a worse clinical course, is more heritable, and shows a lower genetic correlation with other depression subtypes, than does later‐onset depression.
Charlotte A. Dennison, Ida Sønderby, Miguel Garcia‐Argibay, Victoria Powell, Amy Shakeshaft, Lucy Riglin, Elliott Rees, Michael O’Donovan, Henrik Larsson, Ole Andreassen, Alexandra Havdahl, Joanna Martin, Anita Thapar   +12 more
wiley   +1 more source

Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery. [PDF]

NPJ Genom Med
Fu L, Kim CA, Tokita M, Miyata Y, Okamoto N, Makita Y, Osaka H, Fujimoto A, Daida A, Nirei J, Udagawa N, Hayakawa S, Deguchi K, Fukuda M, Matsumoto H, Akasaka M, Okada J, Misumi Y, Kido J, Suzuki T, Aoi H, Seyama R, Hamanoue H, Mitsuhashi S, Ohori S, Saida K, Inoue Y, Hamanaka K, Tsuchida N, Uchiyama Y, Koshimizu E, Miyatake S, Mizuguchi T, Itakura A, Harada N, Fujita A, Matsumoto N.   +36 more
europepmc   +1 more source

Calpain Proteases and the Evolving Signaling Network in Insect Embryonic Patterning

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
Insect embryonic Dorsal‐Ventral (DV) patterning relies on the BMP and Toll pathways to different extents. Calcium‐dependent cystein proteases of the Calpain family also exert an important function to pattern the DV axis. In Drosophila, Calpain A cleaves the Cactus/IkappaB inhibitor and modifies Toll signals in ventral regions of the embryo. In Rhodnius
Alison Julio, Helena Araujo
wiley   +1 more source