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Human genomics

A novel variant in MYBPC3 causes hypertrophic cardiomyopathy by haploinsufficiency

Yuanyuan Zhang, Wenyan Gong, [ ... ], Zhelan Zheng

Understanding and mitigating the impact of ambient mRNA contamination in single-cell RNA-sequencing analysis

Jantarika Kumar Arora, Louisa K. James, Varodom Charoensawan

18 individual genes underwent variant screening in a northwest Chinese group comprised 83 probands diagnosed with early-onset high myopia

Yang Liu, Shao-Chi Zhang, [ ... ], Wen-Juan Zhuang

Differential microRNA profiling of the Marshallese population in Arkansas reveals a higher association with chronic diseases

Gohar Azhar, Ambika Verma, [ ... ], Jeanne Y. Wei

Apparent differences between human and chimp proteomes are reduced when considering human population: Human specific variants are enriched in disordered and compositionally biased regions

Pablo Mier, Miguel A. Andrade-Navarro, Enrique Morett

Positional distribution of transcription factor binding sites in the human genome

Chun-Ping Yu, Zhi Thong Soh, Maloyjo Joyraj Bhattacharjee, Wen-Hsiung Li

Dissecting cell-free DNA fragmentation variation in tumors using cell line-derived xenograft mouse

Ruiqing Fu, He Amy Su, [ ... ], Daru Lu

Rationale and study protocol of the MAMELI Cohort study (Mapping the Methylation of repetitive elements to track the Exposome effects on health: the city of Legnano as a Living lab)

Valentina Bollati, Federica Rota, [ ... ], Elia Biganzoli

Short tandem repeat variants are possibly associated with RNA secondary structure and gene expression

Nick Kinney, Dikshya Pathak, Emma Evans, Paola Arias

Host-pathogen protein interaction studies: quality control of cDNA libraries using nanopore sequencing

Cécile Schimmich, Mathilde Gondard, [ ... ], François Piumi

Utilizing a deep learning model based on BERT for identifying enhancers and their strength

Tong Wang, Mengqi Gao

An updated compendium and reevaluation of the evidence for nuclear transcription factor occupancy over the mitochondrial genome

Georgi K Marinov, Vivekanandan Ramalingam, William J Greenleaf, Anshul Kundaje

Detection of hepatitis B virus mRNA from single cell RNA sequencing data without prior knowledge

Nicolaas Van Renne, Thomas Vanwolleghem

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