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Inherited conditions
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Next-generation sequencing technologies have enabled a dramatic expansion of clinical genetic testing both for inherited conditions and diseases such as cancer. Accurate variant calling in NGS data is a critical step upon which virtually all downstream analysis and interpretation processes rely.
13p
vibransone
28-03-2024
4
2
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As the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in inherited cardiac condition (ICC) genes, including secondary findings.
15p
vicwell
29-02-2024
2
2
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The diagnostic yield of genetic testing for inherited cardiac diseases is up to 40% and is primarily indicated for screening of at-risk relatives. Here, we evaluate the role of genomics in diagnosis and management among consecutive individuals attending a specialised clinic and identify those with the highest likelihood of having a monogenic disease.
14p
vicwell
29-02-2024
4
1
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Sickle cell disease (SCD) is one of the most commonly inherited conditions on the Arabian Peninsula. We report a case of a 17-yearold boy, who had previously been diagnosed with SCD and glucose6-phosphate dehydrogenase (G6PD) deficiency and recently presented to our hospital with spontaneous subgaleal hematoma (SGH), which was managed conservatively.
3p
viintuit
26-09-2023
0
0
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Factor VII deficiency is a rare inherited bleeding disorder that has similar clinical presentation to hemophilia. Even though factor VII deficiency is an extremely rare bleeding disorder, it does occur in our setting. This case highlights the need for clinicians to consider this condition when faced with challenging patients presenting with bleeding disorders.
4p
vidoctorstrange
06-05-2023
2
2
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Syringomyelia (SM) is a common condition affecting brachycephalic toy breed dogs and is characterized by the development of fluid-filled cavities within the spinal cord. It is often concurrent with a complex developmental malformation of the skull and craniocervical vertebrae called Chiari-like malformation (CM) characterized by a conformational change and overcrowding of the brain and cervical spinal cord particularly at the craniocervical junction. CM and SM have a polygenic mode of inheritance with variable penetrance.
12p
vinarcissa
21-03-2023
2
1
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Oculocutaneous Albinism (OCA) is an autosomal recessive inherited condition that affects the pigmentation of eyes, hair and skin. The aim of this study was to identify the genetic mutation responsible for the albinism in a captive capuchin monkey, and to describe the TYR gene of normal phenotype individuals. In addition, we identified the subject’s species.
6p
vinarcissa
21-03-2023
3
1
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The article shows two main measures by which the Vietnamese took over and unified the banking system: First of all, it made careful calculations based on the legal basis to build the legality for the takeover and inheritance of the entire banking system of the former Saigon’s regime as well as its assets inside and outside Vietnam. Second, even while the country was still at war, it had prepared material and human conditions for the process of bank takeover and unification.
14p
visherylsandberg
18-05-2022
4
2
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Lecture Software engineering II: Lesson 42 - Fakhar Lodhi. The main topics covered in this chapter include: a (very) simple example, consolidate duplicate conditional fragments, bad smells in code, duplicated code, switch statements, parallel inheritance hierarchies, lazy class,...
30p
youzhangjing_1909
28-04-2022
10
1
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Human herpesvirus-6A and -6B (HHV-6) are betaherpesviruses that reach > 90% seroprevalence in the adult population. Unique among human herpesviruses, HHV-6 can integrate into the subtelomeric regions of human chromosomes; when this occurs in germ line cells it causes a condition called inherited chromosomally integrated HHV-6 (iciHHV-6). Only two complete genomes are available for replicating HHV-6B, leading to numerous conflicting annotations and little known about the global genomic diversity of this ubiquitous virus.
17p
vibeauty
23-10-2021
5
1
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Hamartomatous polyposis syndromes (HPS) are inherited conditions associated with high cancer risk. They include the Peutz-Jeghers and the PTEN hamartoma tumor syndromes, which are caused by mutations in the LKB1 and PTEN genes, respectively.
6p
vilisa271
22-09-2020
8
1
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Combining ability analysis for yield and its component under late sown condition in bread wheat involved ten diverse parents and their 45 F1s and their F2s indicated significance differences among the parents for gca and crosses for sca for all characters under studied. The GCA and SCA components of variances in both generations showed significant for all traits indicating additive and non additive gene action controlled the pattern of inheritance for the concern traits over the both generations.
16p
chauchaungayxua6
26-06-2020
16
0
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Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant inherited condition affecting multiple endocrine organs, resulting in significant morbidity and decreased life expectancy.
7p
vikuala271
13-06-2020
6
1
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Rust caused by Puccinia arachidis Speg. is the most important disease on Groundnut worldwide. Limited information about nature of inheritance of rust resistance is available to peanut breeders. The investigation was undertaken to determine the mode of genetic inheritance of rust resistance in two F2 populations of groundnut. The crosses were generated by crossing resistant genotypes viz., GPBD5 and ICGV86699 with susceptible genotype TG76.
5p
trinhthamhodang1213
02-06-2020
11
1
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Corn ranks one of the four principal crops of the world. It has greater adaptability and is grown throughout the world, over a range of climatic conditions. Maize breeding programmes generally focus on yield improvement. However, several diseases are responsible for major economic losses in maize. Sorghum downy mildew is one of the most serious diseases in maize producing areas throughout the world. Although effective chemical measures are available, breeding resistant cultivars is more cost effective and environmentally safe alternative for controlling sorghum downy mildew.
17p
cothumenhmong5
17-05-2020
11
1
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Little information is available regarding genetic control and inheritance of economically important traits in bitter gourd (Momordica charantia L.). Previous genetic studies of this crop used a narrow range of germplasm and in different environmental conditions. Thirty one genotypes of bitter gourd were accessed concerning the variability, heritability and genetic advance for 12 quantitative traits. Analysis of variance showed significant differences among the genotypes for all the characters.
7p
trinhthamhodang1212
06-04-2020
20
1
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Parents of children living with chronic but manageable conditions hope for improved therapies or cures, including Advanced Therapy Medicinal Products (ATMPs).
14p
vivalanbo2711
19-03-2020
16
2
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Lentil (Lens culinaris Medik subsp. culinaris) is an autogamous diploid (2n=2x=14), cool season food legume crop cultivated globally. Genomic resources in lentil are limited in comparison with other food legumes, primarily due to large genome size and lack of genetic variation. The present study was aimed to evaluate a set of recombinant inbred lines (RILs) derived from L9-12 × FLIP 2004-7L under irrigated condition and to identify the high yielding rust resistant recombinant inbred lines in lentil.
7p
chauchaungayxua4
18-03-2020
11
0
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Late leaf spot caused by Phaeoisariopsis personata is the most important disease on groundnut worldwide. Although fungicide treatment is effective, it is uneconomical to use because of high cost, hazardous to environment and insensitivity build up in pathogen. The deployment of resistant cultivars is a better option to control LLS disease in groundnut the investigation was undertaken to determine the mode of genetic inheritance of LLS resistance in two F2 and F3 segregating populations of groundnut.
7p
cothumenhmong3
22-02-2020
22
1
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The present investigation was carried out to generate information on variability for quantitative and quality traits in okra [Abelmoschus esculentus (L.) Moench]. The experiment material consisted of 30 genotypes of okra that were evaluated in Randomized Complete Block Design (RCBD) during summer-rainy season, 2018.
13p
cothumenhmong3
22-02-2020
17
0
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