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Single-nucleotide variants within heart enhancers increase binding affinity and disrupt heart development

Developmental cell, 2023-11, Vol.58 (21), p.2206-2216.e5

2023

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Performance assessment of variant calling pipelines using human whole exome sequencing and simulated data

BMC bioinformatics, 2019-06, Vol.20 (1), p.342-342, Article 342

2019

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Selected cachaça yeast strains share a genomic profile related to traits relevant to industrial fermentation processes

Applied and environmental microbiology, 2024-01, Vol.90 (1), p.e0175923

2024

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Genetic characteristics involved in COVID‐19 severity. The CARGENCORS case‐control study and meta‐analysis

Journal of medical virology, 2024-02, Vol.96 (2), p.e29404-n/a

2024

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Origins and characterization of variants shared between databases of somatic and germline human mutations

BMC bioinformatics, 2020-06, Vol.21 (1), p.1-227, Article 227

2020

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Two single nucleotide variants in the miR‐23a promoter affect granulosa cell apoptosis

Animal genetics, 2023-04, Vol.54 (2), p.207-210

2023

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Influence of Genetic Variations in miRNA and Genes Encoding Proteins in the miRNA Synthesis Complex on Toxicity of the Treatment of Pediatric B-Cell ALL in the Brazilian Amazon

International journal of molecular sciences, 2023-02, Vol.24 (5), p.4431

2023

Volltextzugriff (PDF)

Evolution of SARS‐CoV‐2 genome from December 2019 to late March 2020: Emerged haplotypes and informative Tag nucleotide variations

Journal of medical virology, 2021-04, Vol.93 (4), p.2010-2020

2021

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Molecular Landscape of Pelvic Organ Prolapse Provides Insights into Disease Etiology

International journal of molecular sciences, 2023-03, Vol.24 (7), p.6087

2023

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Candidate Genes in Testing Strategies for Linkage Analysis and Bioinformatic Sorting of Whole Genome Sequencing Data in Three Small Japanese Families with Idiopathic Superior Oblique Muscle Palsy

International journal of molecular sciences, 2022-08, Vol.23 (15), p.8626

2022

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HCM-associated ALMS1 variant: Allele drop-out and frequency in Italian Sphynx cats

Animal genetics, 2023-10, Vol.54 (5), p.643-646

2023

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Somatic embryogenesis is an effective strategy for dissecting chimerism phenomena in Vitis vinifera cv Nebbiolo

Plant cell reports, 2021, Vol.40 (1), p.205-211

2021

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Genomic signatures of bottleneck and founder effects in dingoes

Ecology and evolution, 2023-09, Vol.13 (9), p.e10525-n/a

2023

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Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

Human genomics, 2024-02, Vol.18 (1), p.21-21, Article 21

2024

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Analysis of genomic and transcriptomic variations as prognostic signature for lung adenocarcinoma

BMC bioinformatics, 2020-09, Vol.21 (Suppl 14), p.1-368, Article 368

2020

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Assessment of 13 in silico pathogenicity methods on cancer-related variants

Computers in biology and medicine, 2022-06, Vol.145, p.105434-105434, Article 105434

2022

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Simultaneous quantification of multiple single nucleotide variants in PIK3CA ctDNA using mass-tagged LCR probe sets

Talanta (Oxford), 2023-06, Vol.258, p.124426-124426, Article 124426

2023

Volltextzugriff (PDF)

scSNV-seq: high-throughput phenotyping of single nucleotide variants by coupled single-cell genotyping and transcriptomics

Genome Biology, 2024-01, Vol.25 (1), p.20-15, Article 20

2024

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Accurate genotyping of fragmented DNA using a toehold assisted padlock probe

Biosensors & bioelectronics, 2021-05, Vol.179, p.113079-113079, Article 113079

2021

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Molecular profiling of rare thymoma using next-generation sequencing: meta-analysis

Radiology and oncology, 2023-03, Vol.57 (1), p.12-19

2023

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Nanopore Sequencing for De Novo Bacterial Genome Assembly and Search for Single-Nucleotide Polymorphism

International journal of molecular sciences, 2022-08, Vol.23 (15), p.8569

2022

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Changes in intrahost genetic diversity according to lesion severity in longitudinal HPV16 samples

Journal of medical virology, 2024-05, Vol.96 (5), p.e29641-n/a

2024

Volltextzugriff (PDF)

A common variant close to the “tripwire” linker region of NLRP1 contributes to severe COVID-19

Inflammation research, 2023-11, Vol.72 (10-11), p.1933-1940

2023

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SCReadCounts: estimation of cell-level SNVs expression from scRNA-seq data

BMC genomics, 2021-09, Vol.22 (1), p.689-689, Article 689

2021

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HiFi long-read amplicon sequencing for full-spectrum variants of human mtDNA

BMC genomics, 2024-05, Vol.25 (1), p.538-12, Article 538

2024

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Single-nucleotide variants within heart enhancers increase binding affinity and disrupt heart development

Performance assessment of variant calling pipelines using human whole exome sequencing and simulated data

Selected cachaça yeast strains share a genomic profile related to traits relevant to industrial fermentation processes

Genetic characteristics involved in COVID‐19 severity. The CARGENCORS case‐control study and meta‐analysis

Origins and characterization of variants shared between databases of somatic and germline human mutations

Two single nucleotide variants in the miR‐23a promoter affect granulosa cell apoptosis

Influence of Genetic Variations in miRNA and Genes Encoding Proteins in the miRNA Synthesis Complex on Toxicity of the Treatment of Pediatric B-Cell ALL in the Brazilian Amazon

Evolution of SARS‐CoV‐2 genome from December 2019 to late March 2020: Emerged haplotypes and informative Tag nucleotide variations

Molecular Landscape of Pelvic Organ Prolapse Provides Insights into Disease Etiology

Candidate Genes in Testing Strategies for Linkage Analysis and Bioinformatic Sorting of Whole Genome Sequencing Data in Three Small Japanese Families with Idiopathic Superior Oblique Muscle Palsy

HCM-associated ALMS1 variant: Allele drop-out and frequency in Italian Sphynx cats

Somatic embryogenesis is an effective strategy for dissecting chimerism phenomena in Vitis vinifera cv Nebbiolo

Genomic signatures of bottleneck and founder effects in dingoes

Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

Analysis of genomic and transcriptomic variations as prognostic signature for lung adenocarcinoma

Assessment of 13 in silico pathogenicity methods on cancer-related variants

Simultaneous quantification of multiple single nucleotide variants in PIK3CA ctDNA using mass-tagged LCR probe sets

scSNV-seq: high-throughput phenotyping of single nucleotide variants by coupled single-cell genotyping and transcriptomics

Accurate genotyping of fragmented DNA using a toehold assisted padlock probe

Molecular profiling of rare thymoma using next-generation sequencing: meta-analysis

Nanopore Sequencing for De Novo Bacterial Genome Assembly and Search for Single-Nucleotide Polymorphism

Changes in intrahost genetic diversity according to lesion severity in longitudinal HPV16 samples

A common variant close to the “tripwire” linker region of NLRP1 contributes to severe COVID-19

SCReadCounts: estimation of cell-level SNVs expression from scRNA-seq data

HiFi long-read amplicon sequencing for full-spectrum variants of human mtDNA

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