A list of variants, in variant call format (VCF), showing the mutations that were observed more than 10 times in our in-house database consisting of 150 exomes and 13 whole genomes, after they were filtered by allelic frequencies according to the annotations from dbSNP and Exome variant server (refer to methodology section for more details). (VCF 207Â kb
Background: Dramatic improvements in DNA-sequencing technologies and computational ...
Table S3. Homozygous, exonic and nonsynonymous filtered variants that were detected in more than one...
Rare or novel mutations identified in severe microtia-astresia patients. Rare mutations were filtere...
The list of input attributes for each gene that were fed into R for statistical analyses (dN/dS rati...
A summary of the families studied in TIDEX project, and the number of candidate variants remaining a...
A table showing a comparison of dN/dS ratio between the values we reported with our calculation (see...
This section describes an analysis looking at the uniformity of distribution for rare functional var...
Correction Unfortunately, the original article [1] contained an error. The additional files were inc...
Table S2 – List of 20 variants that cause increased exon inclusion All variants were taken from the ...
<p>Correction: Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candida...
Description of MCC-Seq capture panel. This file contains: (1) summary of CpGs and genomic regions ta...
Table S2. Filtered variants detected in three or more patients. Chromosome, start, end - genome coor...
A sample variant input file for ClinLabGeneticist. Table S2. Variant annotation databases and featur...
Mean number of individuals mutated for different types of protein domains. We calculated the mean nu...
Table S7. EMV Cancer driver mutations according to CHASM algorithm. Chrom – chromosome number, Posit...
Background: Dramatic improvements in DNA-sequencing technologies and computational ...
Table S3. Homozygous, exonic and nonsynonymous filtered variants that were detected in more than one...
Rare or novel mutations identified in severe microtia-astresia patients. Rare mutations were filtere...
The list of input attributes for each gene that were fed into R for statistical analyses (dN/dS rati...
A summary of the families studied in TIDEX project, and the number of candidate variants remaining a...
A table showing a comparison of dN/dS ratio between the values we reported with our calculation (see...
This section describes an analysis looking at the uniformity of distribution for rare functional var...
Correction Unfortunately, the original article [1] contained an error. The additional files were inc...
Table S2 – List of 20 variants that cause increased exon inclusion All variants were taken from the ...
<p>Correction: Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candida...
Description of MCC-Seq capture panel. This file contains: (1) summary of CpGs and genomic regions ta...
Table S2. Filtered variants detected in three or more patients. Chromosome, start, end - genome coor...
A sample variant input file for ClinLabGeneticist. Table S2. Variant annotation databases and featur...
Mean number of individuals mutated for different types of protein domains. We calculated the mean nu...
Table S7. EMV Cancer driver mutations according to CHASM algorithm. Chrom – chromosome number, Posit...
Background: Dramatic improvements in DNA-sequencing technologies and computational ...
Table S3. Homozygous, exonic and nonsynonymous filtered variants that were detected in more than one...
Rare or novel mutations identified in severe microtia-astresia patients. Rare mutations were filtere...