IL307784A - וריאנטים בעובר תוך שימוש בקלסיפיקציה המבוססת על פרגמנטומיקה - Google Patents
וריאנטים בעובר תוך שימוש בקלסיפיקציה המבוססת על פרגמנטומיקהInfo
- Publication number
- IL307784A IL307784A IL307784A IL30778423A IL307784A IL 307784 A IL307784 A IL 307784A IL 307784 A IL307784 A IL 307784A IL 30778423 A IL30778423 A IL 30778423A IL 307784 A IL307784 A IL 307784A
- Authority
- IL
- Israel
- Prior art keywords
- read
- algorithms
- sequencing
- maternal
- reads
- Prior art date
Links
Classifications
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
- G16B40/20—Supervised data analysis
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
Landscapes
- Engineering & Computer Science (AREA)
- Health & Medical Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Physics & Mathematics (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Medical Informatics (AREA)
- General Health & Medical Sciences (AREA)
- Theoretical Computer Science (AREA)
- Data Mining & Analysis (AREA)
- Biophysics (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Bioinformatics & Computational Biology (AREA)
- Biotechnology (AREA)
- Evolutionary Biology (AREA)
- Bioethics (AREA)
- Software Systems (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Molecular Biology (AREA)
- Genetics & Genomics (AREA)
- Artificial Intelligence (AREA)
- Databases & Information Systems (AREA)
- Analytical Chemistry (AREA)
- Chemical & Material Sciences (AREA)
- Epidemiology (AREA)
- Evolutionary Computation (AREA)
- Public Health (AREA)
- Computer Vision & Pattern Recognition (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Priority Applications (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| IL307784A IL307784A (he) | 2023-10-16 | 2023-10-16 | וריאנטים בעובר תוך שימוש בקלסיפיקציה המבוססת על פרגמנטומיקה |
| PCT/IL2024/051015 WO2025083690A1 (en) | 2023-10-16 | 2024-10-15 | Noninvasive fetal variant identification using fragmentomics-based classification |
Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| IL307784A IL307784A (he) | 2023-10-16 | 2023-10-16 | וריאנטים בעובר תוך שימוש בקלסיפיקציה המבוססת על פרגמנטומיקה |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| IL307784A true IL307784A (he) | 2025-05-01 |
Family
ID=95448577
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| IL307784A IL307784A (he) | 2023-10-16 | 2023-10-16 | וריאנטים בעובר תוך שימוש בקלסיפיקציה המבוססת על פרגמנטומיקה |
Country Status (2)
| Country | Link |
|---|---|
| IL (1) | IL307784A (he) |
| WO (1) | WO2025083690A1 (he) |
Family Cites Families (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| HUE057821T2 (hu) * | 2015-07-23 | 2022-06-28 | Univ Hong Kong Chinese | Sejtmentes DNS fragmentációs mintázatának elemzése |
| EP3847275A4 (en) * | 2018-09-03 | 2022-06-15 | Ramot at Tel-Aviv University Ltd. | METHOD AND SYSTEM FOR IDENTIFICATION OF GENE DISORDER IN MATERNAL BLOOD |
-
2023
- 2023-10-16 IL IL307784A patent/IL307784A/he unknown
-
2024
- 2024-10-15 WO PCT/IL2024/051015 patent/WO2025083690A1/en active Pending
Also Published As
| Publication number | Publication date |
|---|---|
| WO2025083690A1 (en) | 2025-04-24 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| US20230326547A1 (en) | Variant annotation, analysis and selection tool | |
| US11462298B2 (en) | Methods and processes for non-invasive assessment of genetic variations | |
| EP3760739B1 (en) | Methods and processes for non-invasive assessment of genetic variations | |
| US20150105267A1 (en) | Whole genome sequencing of a human fetus | |
| EA033752B1 (ru) | Способ определения по меньшей мере части генома плода на основе анализа материнского биологического образца | |
| TW202424206A (zh) | 使用獲自懷孕女性之長游離片段進行之分子分析 | |
| AU2015330734A1 (en) | Methods and processes for non-invasive assessment of genetic variations | |
| EP3662479A1 (en) | A method for non-invasive prenatal detection of fetal sex chromosomal abnormalities and fetal sex determination for singleton and twin pregnancies | |
| US20240371466A1 (en) | Method and system for newborn screening for genetic diseases by whole genome sequencing | |
| CA3260582A1 (en) | EPIGENETIC ANALYSIS OF CELLULAR DNA | |
| US11869630B2 (en) | Screening system and method for determining a presence and an assessment score of cell-free DNA fragments | |
| IL307784A (he) | וריאנטים בעובר תוך שימוש בקלסיפיקציה המבוססת על פרגמנטומיקה | |
| JP2025514547A (ja) | 遺伝子疾患の診断及び管理のための片親起源疾患対立遺伝子検出のための方法及び装置 | |
| IL298244A (he) | שיטה ומערכת לזיהוי בדיוק משופר של מחלות גנטיות עובריות בדם האם | |
| Veeramachaneni | Data analysis in rare disease diagnostics | |
| IL298246A (he) | זיהוי לא פולשני של וריאנטים עובריים תוך שימוש באנליזה של הפלוטיפים | |
| WO2021137770A1 (en) | Method for fetal fraction estimation based on detection and interpretation of single nucleotide variants | |
| Lakhani et al. | Integration of Deep Learning Annotations with Functional Genomics Improves Identification of Causal Alzheimer’s Disease Variants | |
| SK1412025A3 (sk) | Metóda detekcie vzoriek s nedostatočným množstvom fragmentov fetálnej a cirkulujúcej nádorovej DNA na neinvazívne genetické testovanie | |
| WO2024086226A1 (en) | Component mixture model for tissue identification in dna samples | |
| WO2023097278A1 (en) | Sample contamination detection of contaminated fragments for cancer classification | |
| CN120814002A (zh) | 高分辨率和非侵入性胎儿测序 |