<p>Predicted number of potentially damaging and deleterious variants as predicted by computational tools SIFT and Polyphen-2.</p
<p>List of potential pathogenic HNF1A missense mutations predicted by all <i>in silico</i> predictio...
ABSTRACT: Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation in hu...
<p>Highly deleterious by SIFT, Probably and possibly damaging by PolyPhen2 and disease/neutral by I-...
<p>Variants in the chromosome 12 SGS predicted damaging/deleterious by MutationTaster/Polyphen2 and ...
<p>Ref.: Reference allele</p><p>Alt.: Alternative allele</p><p>Freq.: Minor allele frequency observe...
<p>Each predictor yields its own type of results, usually quantitative and categorical. We have chos...
When a sequence variation is found in a candidate gene for a disease, it is important to establish w...
Strict guidelines delimit the use of computational information in the clinical setting, due to the s...
<p>*deleterious mutations were defined as “damaging” in SIFT and/or “possibly damaging” or “probably...
<p>Predicted effects due to the mutations in <i>MYBPC1</i> using SIFT and PolyPhen-2.</p
<p>Fisher's exact test using the SPSS was used for statistical analysis of novel mutations. A <i>p</...
Our aim is to prioritize human missense mutations by their probability of being disease causing. Suc...
<p>Considering the phred-like (scaled) score of 15 as deleterious, CADD predicts highest number of v...
<p>From the top, the first plot depicts the PolyPhen-2 score for each variant, the second depicts th...
Molecular biology is currently a fast-advancing science. Sequencing techniques are getting cheaper, ...
<p>List of potential pathogenic HNF1A missense mutations predicted by all <i>in silico</i> predictio...
ABSTRACT: Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation in hu...
<p>Highly deleterious by SIFT, Probably and possibly damaging by PolyPhen2 and disease/neutral by I-...
<p>Variants in the chromosome 12 SGS predicted damaging/deleterious by MutationTaster/Polyphen2 and ...
<p>Ref.: Reference allele</p><p>Alt.: Alternative allele</p><p>Freq.: Minor allele frequency observe...
<p>Each predictor yields its own type of results, usually quantitative and categorical. We have chos...
When a sequence variation is found in a candidate gene for a disease, it is important to establish w...
Strict guidelines delimit the use of computational information in the clinical setting, due to the s...
<p>*deleterious mutations were defined as “damaging” in SIFT and/or “possibly damaging” or “probably...
<p>Predicted effects due to the mutations in <i>MYBPC1</i> using SIFT and PolyPhen-2.</p
<p>Fisher's exact test using the SPSS was used for statistical analysis of novel mutations. A <i>p</...
Our aim is to prioritize human missense mutations by their probability of being disease causing. Suc...
<p>Considering the phred-like (scaled) score of 15 as deleterious, CADD predicts highest number of v...
<p>From the top, the first plot depicts the PolyPhen-2 score for each variant, the second depicts th...
Molecular biology is currently a fast-advancing science. Sequencing techniques are getting cheaper, ...
<p>List of potential pathogenic HNF1A missense mutations predicted by all <i>in silico</i> predictio...
ABSTRACT: Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation in hu...
<p>Highly deleterious by SIFT, Probably and possibly damaging by PolyPhen2 and disease/neutral by I-...