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570
The diploid genome sequence of an individual human
- PLoS Biol
"... Presented here is a genome sequence of an individual human. It was produced from;32 million random DNA fragments, sequenced by Sanger dideoxy technology and assembled into 4,528 scaffolds, comprising 2,810 million bases (Mb) of contiguous sequence with approximately 7.5-fold coverage for any given r ..."
Abstract
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Cited by 293 (6 self)
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.1 million DNA variants, encompassing 12.3 Mb. These variants (of which 1,288,319 were novel) included 3,213,401 single nucleotide polymorphisms (SNPs), 53,823 block substitutions (2–206 bp), 292,102 heterozygous insertion/deletion events (indels)(1–571 bp), 559,473 homozygous indels (1–82,711 bp), 90
Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees
- PloS One
, 2013
"... The identification of disease-causing mutations in next-generation sequencing (NGS) data requires efficient filtering techniques. In patients with rare recessive diseases, compound heterozygosity of pathogenic mutations is the most likely inheritance model if the parents are non-consanguineous. We d ..."
Abstract
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Cited by 5 (2 self)
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with exomes of four family members, two sisters affected by Mabry syndrome and their healthy parents, the disease-causing gene PIGO, which harbors the pathogenic compound heterozygous variants, could be readily identified. Compound heterozygous filtering is an efficient means to reduce the number of candidate
variant detection in cancer genomes
, 2007
"... The undertaking of large-scale DNA sequencing screens for somatic variants in human cancers requires accurate and rapid processing of traces for variants. Due to their often aneuploid nature and admixed normal tissue, heterozygous variants found in primary cancers are often subtle and difficult to d ..."
Abstract
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The undertaking of large-scale DNA sequencing screens for somatic variants in human cancers requires accurate and rapid processing of traces for variants. Due to their often aneuploid nature and admixed normal tissue, heterozygous variants found in primary cancers are often subtle and difficult
Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population
"... Background. Congenital heart block is characterized by blockage of electrical impulses from the atrioventricular node (AV node) to the ventricles. This blockage can be caused by ion channel impairment that is the result of genetic variation. This study aimed to investigate the possible causative va ..."
Abstract
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complete heart block affected child and one unaffected sibling. Bioinformatics was used to identify annotated and filtered variants. Candidate variants were validated and the segregation analysis of other family members was performed. Results. This study identified compound heterozygous variants, c.101G
Exome Sequencing Analysis Identifies Compound Heterozygous Mutation in ABCA4 in a Chinese Family with Stargardt Disease
"... Stargardt disease is the most common cause of juvenile macular dystrophy. Five subjects from a two-generation Chinese family with Stargardt disease are reported in this study. All family members underwent complete ophthalmologic examinations. Patients of the family initiated the disease during child ..."
Abstract
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Cited by 1 (1 self)
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was used to analyze the exome of two patients II1, II2. A total of 50709 variations shared by the two patients were subjected to several filtering steps against existing variation databases. Identified variations were verified in all family members by PCR and Sanger sequencing. Compound heterozygous
variant in the PRDM5 gene in a family with
, 2015
"... Whole exome sequencing identifies a heterozygous missense ..."
Lower Metabolic Rate in Individuals Heterozygous for Either a Frameshift or a Functional Missense MC4R Variant
"... OBJECTIVE—Humans with functional variants in the melano-cortin 4 receptor (MC4R) are obese, hyperphagic, and hyperin-sulinemic but have been reported to have no difference in energy expenditure. RESEARCH DESIGN AND METHODS—We investigated the association of two MC4R variants, Arg165Gln (R165Q) and A ..."
Abstract
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Cited by 2 (2 self)
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OBJECTIVE—Humans with functional variants in the melano-cortin 4 receptor (MC4R) are obese, hyperphagic, and hyperin-sulinemic but have been reported to have no difference in energy expenditure. RESEARCH DESIGN AND METHODS—We investigated the association of two MC4R variants, Arg165Gln (R165Q
Heterozygous Loss-of-Function Variants in CYP1B1 Predispose to Primary Open-Angle Glaucoma
"... PURPOSE. Although primary congenital glaucoma (PCG)-associated CYP1B1 mutations in the heterozygous state have been evaluated for association with primary open-angle glaucoma (POAG) in several small studies, their contribution to the occurrence of POAG is still controversial. The present study was ..."
Abstract
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Cited by 1 (0 self)
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was conducted to determine whether heterozygous functionally characterized CYP1B1 mutations are associated with the disease in a large cohort of German patients with POAG. METHODS. The frequency of CYP1B1 variants on direct sequencing of the entire coding region was compared in 399 unrelated German patients
Results 1 - 10
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570
