<p>The genotyping information is displayed as a B-allele frequency, with heterozygous SNPs plotted at 0.5, and homozygous plotted at 0 or 1. B-allele frequencies are shown for chromosome 13 (A) and 18 (B). For each chromosome, B-allele frequencies are shown for Patient 1 (top) and Patient 2 (bottom).</p
<p>In Family A, male patients show c.947A>G transition that is predicted to result in a p.D316G subs...
Motivation: With the knowledge of large number of SNPs in human genome and the fast development in h...
<p>Below the individuals, genotypes are presented for either p.S1653KfsX2 (M1), p.L2784R (M2), p.Y29...
<p>The regions of extended homozygosity on Chromosomes 3 (upper panel) and 18 (lower panel) are outl...
<p>(A) Homozygous mutation call c.1878A>T in <i>FANCJ</i> detected in NGS data of patient 2–1. (B) A...
ABSTRACT: Homozygosity mapping has played an impor-tant role in detecting recessive mutations using ...
<p>(A) A plot of the percent homozygosity in the genome of probands from the entire AGRE collection....
<p>The genotypic and allelic frequencies of rs2275913, rs763780 and rs4819554 between cases and cont...
<p>SNP-A based karyotypic analysis on chromosome 9 for (A) a patient heterozygous for the JAK2 V617F...
<p>Homozygous mutation genotype A/A in the two affected brothers, III-2 and III-3. Wild type genotyp...
Copy neutral segments with allelic homozygosity, also known as regions of homozygosity (ROHs), are f...
Homozygosity mapping has played an important role in detecting recessive mutations using families of...
provides estimates of the ABDR haplotype frequencies for three North American populations. Using the...
The identification of recessive disease-causing genes by homozygosity mapping is often restricted by...
<p>B allele frequencies of chromosome 12 in the proband, the mother, and the father are shown. Allel...
<p>In Family A, male patients show c.947A>G transition that is predicted to result in a p.D316G subs...
Motivation: With the knowledge of large number of SNPs in human genome and the fast development in h...
<p>Below the individuals, genotypes are presented for either p.S1653KfsX2 (M1), p.L2784R (M2), p.Y29...
<p>The regions of extended homozygosity on Chromosomes 3 (upper panel) and 18 (lower panel) are outl...
<p>(A) Homozygous mutation call c.1878A>T in <i>FANCJ</i> detected in NGS data of patient 2–1. (B) A...
ABSTRACT: Homozygosity mapping has played an impor-tant role in detecting recessive mutations using ...
<p>(A) A plot of the percent homozygosity in the genome of probands from the entire AGRE collection....
<p>The genotypic and allelic frequencies of rs2275913, rs763780 and rs4819554 between cases and cont...
<p>SNP-A based karyotypic analysis on chromosome 9 for (A) a patient heterozygous for the JAK2 V617F...
<p>Homozygous mutation genotype A/A in the two affected brothers, III-2 and III-3. Wild type genotyp...
Copy neutral segments with allelic homozygosity, also known as regions of homozygosity (ROHs), are f...
Homozygosity mapping has played an important role in detecting recessive mutations using families of...
provides estimates of the ABDR haplotype frequencies for three North American populations. Using the...
The identification of recessive disease-causing genes by homozygosity mapping is often restricted by...
<p>B allele frequencies of chromosome 12 in the proband, the mother, and the father are shown. Allel...
<p>In Family A, male patients show c.947A>G transition that is predicted to result in a p.D316G subs...
Motivation: With the knowledge of large number of SNPs in human genome and the fast development in h...
<p>Below the individuals, genotypes are presented for either p.S1653KfsX2 (M1), p.L2784R (M2), p.Y29...