ARTICLE
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doi:10.20944/preprints202309.1240.v1
Subject:
Medicine And Pharmacology,
Pediatrics, Perinatology And Child Health
Keywords:
prenatal; WES; sequencing; exome; fetal; malformations
Online: 19 September 2023 (15:20:11 CEST)
ARTICLE
Subject:
Medicine And Pharmacology,
Oncology And Oncogenics
Keywords:
whole exome sequencing; melanoma; circulating tumor dna
Online: 4 October 2019 (10:35:02 CEST)
ARTICLE
|
doi:10.20944/preprints202311.1812.v1
Subject:
Medicine And Pharmacology,
Immunology And Allergy
Keywords:
autoimmune adrenal insufficiency; autoimmune polyglandular syndromes; autoantibodies; microarray; whole-exome sequencing; Trio-exome sequencing; high-resolution HLA typing
Online: 29 November 2023 (02:22:25 CET)
ARTICLE
|
doi:10.20944/preprints202307.0808.v1
Subject:
Medicine And Pharmacology,
Veterinary Medicine
Keywords:
Canine lymphoma; Whole-exome sequencing; B-cell; PARR
Online: 12 July 2023 (09:38:44 CEST)
ARTICLE
|
doi:10.20944/preprints202409.0734.v1
Subject:
Medicine And Pharmacology,
Medicine And Pharmacology
Keywords:
atrial fibrillation; bleeding; anticoagulation; pharmacogenetics; DOAC; whole-exome sequencing
Online: 10 September 2024 (08:52:42 CEST)
COMMUNICATION
|
doi:10.20944/preprints202211.0440.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Cervical cancer; Functional genomics; Bioinformatics; Next Generation Sequencing; Exome
Online: 23 November 2022 (07:42:19 CET)
ARTICLE
|
doi:10.20944/preprints202103.0257.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
SLC15A4; germline variant; familial colorectal cancer; whole exome sequencing
Online: 9 March 2021 (10:24:33 CET)
ARTICLE
|
doi:10.20944/preprints202409.0462.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Intracranial epidermoid cysts; rare cancers; whole-exome sequencing; targeted therapy
Online: 5 September 2024 (12:10:35 CEST)
ARTICLE
|
doi:10.20944/preprints202401.1646.v1
Subject:
Medicine And Pharmacology,
Medicine And Pharmacology
Keywords:
whole exome sequencing; T cell receptor repertoire; diversity; rheumatoid arthritis
Online: 23 January 2024 (06:46:19 CET)
ARTICLE
|
doi:10.20944/preprints202003.0424.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
primary congenital glaucoma; exome sequencing; GUCA1C; GCAP3; zebrafish; CRISPR/Cas9
Online: 29 March 2020 (06:33:17 CEST)
ARTICLE
|
doi:10.20944/preprints202408.0431.v1
Subject:
Medicine And Pharmacology,
Dermatology
Keywords:
hidradenitis suppurativa; whole-exome sequencing; γ-secretase; nicastrin; notch pathway; inflammation
Online: 7 August 2024 (03:18:45 CEST)
ARTICLE
|
doi:10.20944/preprints202008.0718.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
early-onset breast cancer; hereditary cancer; whole-exome sequencing; young women
Online: 31 August 2020 (09:46:26 CEST)
ARTICLE
|
doi:10.20944/preprints202403.0851.v1
Subject:
Medicine And Pharmacology,
Neuroscience And Neurology
Keywords:
dementia; whole exome sequencing; rare pathogenic variants; ciliary defects; argininosuccinate synthase deficiency
Online: 14 March 2024 (15:18:08 CET)
ARTICLE
|
doi:10.20944/preprints202305.1290.v1
Subject:
Medicine And Pharmacology,
Dermatology
Keywords:
cutaneous T-cell lymphoma; ultraviolet; mutation signatures; malignant melanoma, whole exome sequencing
Online: 18 May 2023 (07:36:55 CEST)
ARTICLE
|
doi:10.20944/preprints202102.0040.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
APCDD1; HDAC5; germline variants; familial colorectal cancer; whole exome sequencing; promoter activity
Online: 1 February 2021 (14:04:24 CET)
CASE REPORT
|
doi:10.20944/preprints202008.0502.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
KARS gene; aminoacylation; leucodistrophy; epilepsy; hearing loss developmental delay; whole exome sequencing
Online: 24 August 2020 (03:10:45 CEST)
ARTICLE
|
doi:10.20944/preprints202407.1249.v1
Subject:
Public Health And Healthcare,
Other
Keywords:
whole-exome sequencing; lung cancer susceptibility; germline variants; next-generation sequencing; oligogenic model
Online: 16 July 2024 (10:08:28 CEST)
CASE REPORT
|
doi:10.20944/preprints202312.0328.v1
Subject:
Biology And Life Sciences,
Other
Keywords:
COVID-19; SARS-CoV-2; oncology; genetic variants; NGS; severity; genetic associations; exome
Online: 6 December 2023 (08:52:54 CET)
ARTICLE
|
doi:10.20944/preprints202308.1369.v1
Subject:
Medicine And Pharmacology,
Oncology And Oncogenics
Keywords:
colorectal cancer; stage III; molecular profiling; IDEA study; whole exome sequencing; bioinfor-matics
Online: 18 August 2023 (10:51:10 CEST)
CASE REPORT
|
doi:10.20944/preprints202306.1051.v1
Subject:
Medicine And Pharmacology,
Ophthalmology
Keywords:
Clinical exome sequencing, C282Y mutation, Hereditary hemochromatosis, HFE gene, Iron overload, Pseudovitelliform maculopathy
Online: 14 June 2023 (13:47:40 CEST)
COMMUNICATION
|
doi:10.20944/preprints201808.0534.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
long non coding RNA, whole exome sequencing, protein interaction, congenital pouch colon, microscale thermophoresis
Online: 30 August 2018 (15:30:35 CEST)
ARTICLE
|
doi:10.20944/preprints201609.0024.v1
Subject:
Medicine And Pharmacology,
Neuroscience And Neurology
Keywords:
neurofibromatosis type 1; congenital pseudarthrosis of the tibia; whole-exome sequencing; targeted sequencing; BCOR
Online: 7 September 2016 (11:19:00 CEST)
REVIEW
|
doi:10.20944/preprints202408.0300.v1
Subject:
Biology And Life Sciences,
Immunology And Microbiology
Keywords:
antibody deficiency; common variable immunodeficiency; epigenetics; immune dysregulation; inborn error of immunity; whole exome sequencing
Online: 5 August 2024 (10:54:03 CEST)
ARTICLE
|
doi:10.20944/preprints202306.0651.v1
Subject:
Medicine And Pharmacology,
Endocrinology And Metabolism
Keywords:
Exome-wide association stud; Vitamin D deficiency; genetic determinants; polygenic risk score; Middle Eastern population.
Online: 8 June 2023 (14:18:18 CEST)
ARTICLE
|
doi:10.20944/preprints201806.0216.v1
Subject:
Medicine And Pharmacology,
Clinical Medicine
Keywords:
Diagnosis delay; rare diseases; undiagnosed programs; standardized phenotype; phenotype ontologies; whole exome analysis; international data sharing
Online: 13 June 2018 (15:41:21 CEST)
REVIEW
|
doi:10.20944/preprints202307.1110.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
multiple myeloma; next generation sequencing; whole genome sequencing; whole exome se-quencing; myTYPE panel; minimal residual disease.
Online: 17 July 2023 (15:06:14 CEST)
REVIEW
|
doi:10.20944/preprints201611.0120.v1
Subject:
Medicine And Pharmacology,
Oncology And Oncogenics
Keywords:
pNENs; 2010 WHO classification; Ki-67 index; mitotic count; pNEC; tumor differentiation; whole-exome sequence data; everolimus; sunitinib; platinum regimen
Online: 24 November 2016 (10:59:33 CET)
ARTICLE
|
doi:10.20944/preprints202409.0618.v1
Subject:
Biology And Life Sciences,
Biology And Biotechnology
Keywords:
Neurological diagnostics; Genetic technologies; Microarray analysis Variant sequencing; Exome sequencing; RNA sequencing; Whole genome sequencing; Functional analysis; Personalized medicine; Neurological disorders
Online: 9 September 2024 (09:21:13 CEST)
CASE REPORT
|
doi:10.20944/preprints202408.0010.v1
Subject:
Medicine And Pharmacology,
Obstetrics And Gynaecology
Keywords:
breast pathology; breast abscess; suppurative breast lesion; tuberculous mastitis; breast cancer; mastitis; idiopathic granulomatous mastitis; somatic mutations; pathogenic mutations; whole-exome sequencing
Online: 1 August 2024 (10:59:25 CEST)
REVIEW
|
doi:10.20944/preprints202401.0237.v1
Subject:
Medicine And Pharmacology,
Cardiac And Cardiovascular Systems
Keywords:
congenital heart disease; first heart field; second heart field; whole exome sequencing; whole genome sequencing; loss-of-function variant; copy number variants; gene variants; deletion; de novo mutations
Online: 3 January 2024 (11:57:54 CET)