Journal: iScience

Article Title: Flowtigs: Safety in flow decompositions for assembly graphs

doi: 10.1016/j.isci.2024.111208

Figure Lengend Snippet:

Article Snippet: Our experiments with real data were performed on the ZymoBIOMICS Gut Microbiome Standard dataset (henceforth referred to by Zymo), a microbial community that mimics the human gut microbiome.

Techniques: Software

Journal: European Journal of Human Genetics

Article Title: Primary brain calcification: an international study reporting novel variants and associated phenotypes

doi: 10.1038/s41431-018-0185-4

Figure Lengend Snippet: Details on SLC20A2 variants and phenotype of variant carriers

Article Snippet: Briefly, these criteria included prior identification as a PFBC-causing variant (reported in the literature, HGMD, Clinvar, and/or the PFBC variant database https://coppolalab.ucla.edu/lovd/genes ), allele frequency in population databases (gnomAD [ 25 ], http://gnomad.broadinstitute.org/ ), computational and predictive data (Polyphen2, SIFT, MutationTaster, and splicing predictions provided by the Alamut visual software (Interactive Biosoftware, Rouen, France)), functional studies (reported in the literature), and segregation data.

Techniques: Variant Assay, Mutagenesis, Computed Tomography

Journal: European Journal of Human Genetics

Article Title: Primary brain calcification: an international study reporting novel variants and associated phenotypes

doi: 10.1038/s41431-018-0185-4

Figure Lengend Snippet: Details on PDGFRB variants and phenotype of variant carriers

Article Snippet: Briefly, these criteria included prior identification as a PFBC-causing variant (reported in the literature, HGMD, Clinvar, and/or the PFBC variant database https://coppolalab.ucla.edu/lovd/genes ), allele frequency in population databases (gnomAD [ 25 ], http://gnomad.broadinstitute.org/ ), computational and predictive data (Polyphen2, SIFT, MutationTaster, and splicing predictions provided by the Alamut visual software (Interactive Biosoftware, Rouen, France)), functional studies (reported in the literature), and segregation data.

Techniques: Variant Assay, Mutagenesis, Computed Tomography

Journal: European Journal of Human Genetics

Article Title: Primary brain calcification: an international study reporting novel variants and associated phenotypes

doi: 10.1038/s41431-018-0185-4

Figure Lengend Snippet: Details on XPR1 variants and phenotype of variant carriers

Article Snippet: Briefly, these criteria included prior identification as a PFBC-causing variant (reported in the literature, HGMD, Clinvar, and/or the PFBC variant database https://coppolalab.ucla.edu/lovd/genes ), allele frequency in population databases (gnomAD [ 25 ], http://gnomad.broadinstitute.org/ ), computational and predictive data (Polyphen2, SIFT, MutationTaster, and splicing predictions provided by the Alamut visual software (Interactive Biosoftware, Rouen, France)), functional studies (reported in the literature), and segregation data.

Techniques: Variant Assay, Mutagenesis, Computed Tomography, Concentration Assay

Journal: European Journal of Human Genetics

Article Title: Primary brain calcification: an international study reporting novel variants and associated phenotypes

doi: 10.1038/s41431-018-0185-4

Figure Lengend Snippet: Details on PDGFB variants and phenotype of variant carriers

Article Snippet: Briefly, these criteria included prior identification as a PFBC-causing variant (reported in the literature, HGMD, Clinvar, and/or the PFBC variant database https://coppolalab.ucla.edu/lovd/genes ), allele frequency in population databases (gnomAD [ 25 ], http://gnomad.broadinstitute.org/ ), computational and predictive data (Polyphen2, SIFT, MutationTaster, and splicing predictions provided by the Alamut visual software (Interactive Biosoftware, Rouen, France)), functional studies (reported in the literature), and segregation data.

Techniques: Variant Assay, Mutagenesis, Computed Tomography