Results 171 to 180 of about 334,258 (285)

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Oatk: a de novo assembly tool for complex plant organelle genomes. [PDF]

Genome Biol
Zhou C, Brown M, Blaxter M, Darwin Tree of Life Project Consortium, McCarthy SA, Durbin R.   +5 more
europepmc   +2 more sources

De Novo assembly and analysis of the transcriptome of the Hyalomma anatolicum genes differentially expressed in normal morphology and disability. [PDF]

Parasitol Res
Zhang J, Ge T, Xu R, Zhang M, Li N, Song R, Wang Y, Wang S.   +7 more
europepmc   +1 more source

The complete mitochondrial genome of Prinsepia uniflora (Rosaceae): De novo assembly, characterization, and phylogenetic analysis. [PDF]

BMC Genomics
Ma D, Ma L, Cui J, Zhang E, Guo T, Zhang L.   +5 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

A long-read-based de novo assembly of Magallana bilineata for improved tropical oyster aquaculture. [PDF]

G3 (Bethesda)
Campbell MA, Silver LW, Balachandran N, Pathirana E, Jeffrey C, Lal M, O'Connor WA, Hogg CJ, Becker JA.   +8 more
europepmc   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

De novo assembly of complete circular mitochondrial genomes from 2,695 fungal species. [PDF]

Sci Data
Sarhan MS, Abdalrahem A, Maixner F, Fuchsberger C.   +3 more
europepmc   +1 more source

Long-read de novo assembly of the spekboom (Portulacaria afra) genome. [PDF]

Sci Data
Meyer WB, Barkhuizen-Roode H, Rothmann L, Derman SS, Mian S, Vorster AA, Van Heerden CJ, Leitch IJ, Van Jaarsveld E, Prins R.   +9 more
europepmc   +1 more source

Reference-Guided Chromosome-by-Chromosome de novo Assembly at Scale Using Low-Coverage High-Fidelity Long-Reads with HiFiCCL. [PDF]

Adv Sci (Weinh)
Jiang Z, Pan W, Gao R, Hu H, Gao W, Zhou M, Yin YH, Qian Z, Jin S, Wang G.   +9 more
europepmc   +1 more source