Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

Jason O'Rawe, Tao Jiang, Guangqing Sun, +10

Genome Medicine

Accurate de novo and transmitted indel detection in exome-capture data using microassembly

Giuseppe Narzisi, Jason O'Rawe, Ivan Iossifov, +7

Nature Methods

Long-read SequencingFunctional GenomicsEngineeringMedicineGenetics +12

Reducing INDEL calling errors in whole genome and exome sequencing data

Han Fang, Yiyang Wu, Giuseppe Narzisi, +7

Genome Medicine

Indel variant analysis of short-read sequencing data with Scalpel

Han Fang, Ewa A. Bergmann, Kanika Arora, +16

Nature Protocols

BioinformaticsLong-read SequencingFunctional GenomicsIndel Variant AnalysisNext-generation Sequencing +7

Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects

Line M. Myklebust, Petra Van Damme, Svein I. Støve, +14

Human Molecular Genetics

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Jason O'Rawe, Yiyang Wu, Max J. Dörfel, +44

The American Journal of Human Genetics

Facile ultrasonic synthesized NH2-carbon quantum dots for ultrasensitive Co2+ ion detection and cell imaging

Yiyang Wu, Youdi Liu, Jingya Yin, +2

Talanta

Materials ScienceEngineeringCarbon-based MaterialNanomaterialsNanotechnology +6

A longitudinal resource for population neuroscience of school-age children and adolescents in China

Xue-Ru Fan, Yin-Shan Wang, Da Chang, +253

Scientific Data

Worlds apart? Testing the cultural distance hypothesis in music perception of Chinese and Western listeners

Mathias Klarlund, Elvira Brattico, Marcus T. Pearce, +4

Cognition

JUNO sensitivity to ⁷Be, pep, and CNO solar neutrinos

Thomas Adam, S. Ahmad, Rizwan Ahmed, +601

Journal of Cosmology and Astroparticle Physics

Neutrino PropertyExperimental Nuclear PhysicsEngineeringPhysicsLong Baseline Neutrino Experiment +11