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關於 de novo mutation ，我們在網路上蒐集到這些相關的討論、資訊與評價

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在de novo mutation這個產品中，有2篇Facebook貼文，粉絲數超過7萬的網紅Dr 文科生，也在其Facebook貼文中提到， 講CUHK單嘢都講到口臭，今日想講下現代醫學急速發展，科學醫學基因學一日千里後對醫學院學生同初級醫生嘅影響 拿，頭盔，我唔係故意要同senior們作對，而係有d好重要嘅概念我覺得一路都無人address過。而醫學界仍然有股好重嘅「當年都係咁捱咁讀，點解你咁多意見」嘅風氣 的確，當年前輩們嘅非人o...

de novo mutation 在 Dr 文科生 Facebook 的最讚貼文

Dr 文科生 By Dr 文科生

2021-04-30 07:47:24 有 444 人按讚
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講CUHK單嘢都講到口臭，今日想講下現代醫學急速發展，科學醫學基因學一日千里後對醫學院學生同初級醫生嘅影響

拿，頭盔，我唔係故意要同senior們作對，而係有d好重要嘅概念我覺得一路都無人address過。而醫學界仍然有股好重嘅「當年都係咁捱咁讀，點解你咁多意見」嘅風氣

的確，當年前輩們嘅非人on call生活、要去library睇文獻睇書而唔係方便地用Microsoft surface神速打筆記、開uptodate、開pubmed/medline等等。

無可否認，上個年前代嘅醫生們要增進知識要靠嘅自動波去睇論文去溫書，甚至要自己去R導師做臨床教學等等。無人否認當年環境無咁豐富，上堂無精美PowerPoint、臨床教學今時今日已經好structured，分哂history session, examination session, skills session，有像真度極高嘅假人俾你練習，呢d係上代無嘅luxuries

No one is denying this fact

但上一代都一樣無嘅係咩，大家有無諗過？

就係千千萬萬種過去20年發展出來嘅科學醫學理論同治療方法。

O&G 幾十年前都未知道preeclampsia嘅實際原因係乜，原來可以early pregnancy low dose aspirin prevent or delay onset of preeclampsia。廿年前都無HPV疫苗, 都無話原來screen HPV virology比Pap smears更有效發現子宮頸病變，廿年前無人需要知道呢d

Rheumatology幾十年都無一堆biologics, TNFa, IL inhibitor 。原來autoimmune inflammatory arthritis failed NSAID/MTX可以轉infliximab, adalimumab。psoriatic可以用secukinumab但如果有IBD/enteropathic features要小心IL-17 inhibitor，廿前年無人需要知道呢d

Immunology/ID，幾十年前HIV邊有咁多種antiretroviral？今時今日ART多到就算你de novo resistance都可以換藥換到U=U，廿年前都係得舊式治療，無人需要知種種嘅新式療法。immunology仲多咗幾十種唔同嘅complement, complement inhibitor etc etc嘅investigation

Respiratory醫ILD或pulmonary HTN幾十年前個療法來來去去都係得幾種。今時今日IPF有nintedanib，Pul HTN有成堆endothelin antagonist、PDE5 inhibitor同prostacyclin類嘅藥要知。asthma當年來來去去都係ventolin+inhaled/oral steroid，今時今日分埋IgE asthma, eosinophilic asthma，有成堆唔同嘅SABA-LABA, SAMA-LAMA, IgE monoclonal antibodies, IL-5, IL-4 and IL-13，到底eosinophil要幾多先會大機會有response，用緊steroid嘅eosinophil個cutoff係幾多。

Hematology/oncology幾十年前都未有monoclonal antibodies，無rituximab、nivolumab、targeted therapy等等，幾十年來個發現多咗好多唔同gene mutation同targeted site，EGFR, VEGFR, CTLA-4, PD-1，PD-L1、BRAF，HER-2, you name it you got it。以前癌症病人你大多只要beware of neutropenic fever/infection，今時今日你要screen埋immune checkpoint inhibitor autoimmune hepatitis, pneumonitis, thyroditis, colitis，你要知埋有個病人用緊nivolumab時突然變黃，你要screen咩autoimmune，落咩藥，high dose steroid定點，之後仲可唔可以rechallenge。乳癌病人HER-2依加唔止用herceptin，仲有埋pertuzumab，你仲要screen埋cardiomyopathy，echo drop幾多可以接受，係唔係reversible，可唔可以rechallenge

Endocrine幾十年前糖尿病來來去去都係metformin, gliclazide, insulin今時今日T2DM有GLP-1, SGLT-2, gliptin等等，有埋continuous glucose monitoring device又有bump又有唔同林林總總嘅治療。唔止T1/T2DM，今時今日仲有埋LADA，你要知埋個autoimmune panel screen咩。骨質疏鬆當年玩來玩去都係bisphosphonate，今時今日有denusumab有teriparatide，仲有更多新藥。

Gastroenterology幾十年前IBD來來去去都係steroid/steroid sparing agent 5-ASA/aza，今時今日有TNFa blocker有a4b7 inhibitor vedolizumab。當年hepC得幾種antiviral今時今日有sofosbuvir, velpatasvir, glecaprevir等等，仲變成curative。

Neurology MS幾十年前邊有natalizumab，今時今日如果MS on natalizumab with rapid neurological decline，你要諗埋會唔會可能係JC virus reactivation。GBM以前都係只靠surgical resection，今時今日可以用avastin, temozolomide仲要screen埋MGMT hypermethylation去決定有無得用chemo

呢啲改變同發展只係佔各system嘅一小部分，只係我細小嘅腦袋突然諗到嘅小部分內容。世界不斷發展，學海無涯，我們有愈來愈多嘅知識要學，呢一點無人懷疑過。

醫生擁有比一般人更多嘅權力同地位，就自然需要更大嘅責任。

但係，值得大家反思嘅係，當個knowledge base不斷擴大嘅時候，考試仍然要期望你記埋某張slide嘅角落嘅minute details時，呢個係唔係一個合理嘅期望？

當一個basic trainee去考PACES/long case嘅時候，到底係唔係同以前一樣要知得咁深入？當深度一樣，而個base不斷widen broaden時，新世代嘅醫生應該如何應對？

而考試嘅範圍似乎未有被address過，呢點好值得我地一齊諗諗

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de novo mutation 在 余海峯 David . 物理喵 phycat Facebook 的精選貼文

余海峯 David . 物理喵 phycat By 余海峯 David . 物理喵 phycat

2019-01-27 23:13:10 有 54 人按讚
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肥控制員的化驗室 解釋咗點解我咁靚仔都唔係李+x，因為我打過疫苗針同埋睇過醫生😱😂

#已移除Link 可以 share 這篇

素人父母反疫苗反上腦，依家仲夠膽草擬一封信，要求醫生承擔接種疫苗既後果。其實外面已經有好多科學同醫學既 page 鞭撻反疫苗既荒謬，個個都好詳盡咁解釋科學研究同理論，我覺得我呢個半桶水真係無咩位再去講。不過聽到法網肥人既召喚，咁等我用比較市井既方式講兩句啦，因為呢班人唔係缺乏高深科學教育，而係五行欠X：

1. 先講講封信，呢封信咁把炮，但只係列出 autistic spectrum diseases (其實係 disorder，我估呢班人點樣分 illness, diseases, condition, disorder 同 syndrome都唔識)，Attention deficit and hyperactive disease (again，係 disorder 而唔係 disease)，Eczema 同Asthma。點解唔詳細列出整個自閉症譜系障礙既症狀出來呢？唔識，定係有遺漏？抑或係仲未想到有邊種手尾長既 disorder 寫落去？作為父親，我可以推介你地下次加埋呢堆要父母勞心勞力照顧既古怪疾病落去，賴埋係疫苗引起既問題：Dyslexia, Glucose-6-phosphate dehydrogenase deficiency, Phenylketonuria, α/β/δ thalassemia, all childhood idiopathic diseases, all childhood blood cancers… 咁你咪可以完全免除做父母既勞心勞力同麻煩囉，係咪？

2. 好多素人父母根本就唔識科學。我所指既唔識，唔係簡單非理科出身，而係連基本思考同邏輯都無。喂，讀文科都要 scientific mind 要邏輯架，有無聽過讀歷史會講求「言必有據、無徵不信、孤證不立」呀？有無聽過史學研究有「內部考證」同「外部考證」以及「歸納推理」同「演繹推理」呀？好明顯係無，識就唔會咁容易被人昆啦！我相信好多香港人既 degree 係背書背返來既。就咁，點解 Andrew Wakefield 個假 research 就信，其他 research 就唔信？反過來講，佢地有無想過點解 Andrew Wakefield 個 research 係做假，其他 research 就唔係呀？唔好同我講 big pharma同conspiracy theory 呀。

講返封信上既兩類症狀，第一就係自閉症呢類發展障礙，第二就係濕疹／哮喘呢類免疫系統問題。我都講過百九幾萬次病有好多成因，自閉症呢類發展障礙係搵唔到原因，你話係咪基因問題？可能係。咁基因出現問題，但人類進化一直都無 eliminate 呢種壞基因，一係呢種基因有過人之處，自然界唔會淘汰佢，一係就係 de novo mutation（新生突變）。咁免疫系統問題呢？睇返我上次講 children leukemia 果篇啦。

如果乜都關疫苗關西醫事，咁我知點解我唔係李嘉誠啦，因為我細個有打疫苗，仲有我上個月都仲有睇西醫。

3. 孩子係上天賜俾我地既禮物。上天賜禮物俾你，唔一定代表係有即時利益同唔使錢有你著數先叫做禮物。上天賜呢份大禮俾你，係要你做左二三十年人之後，好好從孩子身上學習點樣睇清楚自己、點樣面對自己既不足、點樣去接受天命、點樣去改變自己生活習慣，學習以付出代替收穫、點樣去愛與被愛… 所以，孩子有乜問題，你都要接受。人生豈能盡如人意？輸唔起，付出唔起，怕承擔責任，咁學乜人做王子公主？不如同居加結紮啦！呢D父母，根本就係怕萬一自己既細路有問題，將來係精神與金錢既付出會有幾龐大，反而無想過點去面對同拆呢個問題，否則點會寫 responsible for the medical fee and daily care fee? 咁你既愛同無償付出計唔到數咩？計唔到就搵律師計，佢地識計架。要唔要法網肥人解釋咩叫 Loss of Society 同 Loss of Service 呀？

4. 好啦，上面提到基因問題，假設自閉症呢類發展障礙係因為基因出現問題先有，咁點解人類進化史唔會淘汰呢類壞基因？你可以睇一睇之前我講 sickle cell anaemia 果篇文就明。另外，有無睇 Dustin Hoffman套 Rainman 或者 Ben Affleck 套 The Accountant? 戲裡面既自閉症主角，就係有過人既能力同智慧。自閉症唔係精神病，佢地有 special educational needs，而香港呢個社會同埋香港人正正就係唔想付出額外金錢同時間去 tailor made 任何野俾呢班小朋友！講到自閉症，其實好多人都有自閉症，最出名既就係美國動物行為學家 Temple Grandin，唔識？咁唔好生住啦你。仲有寫愛麗絲夢遊仙境既 Lewis Carrol，愛恩斯坦，大導演寇比力克，諾貝爾生理醫學獎得主Barbara McClintock… 如果你腦中只有恐懼、無知、擔心要付出，咁你就算生個正常小朋友兼唔打疫苗佢都死唔去，你一樣唔會俾到佢愉快成長既環境。

5. 最後我想講，好多素人父母係科學常識同邏輯思考上有嚴重缺陷。先講素人父母好 buy 所謂既「自然療法」(Homeopathy)：Homeopathy 根本不應翻譯做自然療法，點解？Homeopathy 係由兩個古希臘文既字頭 (prefix) 與字尾 (suffix) 組成，Homeo- (希臘文 Homío)解作 the same，而 –pathy (希臘文 páthos)解作 therapy，所以 Homeopathy 應該翻譯為 the same therapy同源療法（或者順勢療法）。後來點解係華文社會同源療法變成自然療法呢？我唔知道。只知道文字係極具威力，一放左「自然」兩個字，呢瓣偽科學就同中醫、草藥、天然無添加、唔化學、古人智慧結晶等等劃上等號。等你班友一指責自然療法，就等同質疑埋中醫、草藥、天然無添加、唔化學、古人智慧結晶。君不見每次有人質疑自然療法，其他非自然療法但又非西醫系統既人都會跳出來咩？另外，自然療法最喜歡講水稀釋同水記憶。水記憶呢D違反自然科學法則既偽科學，外面大把解釋，我無謂重覆，而且咩 hydrogen bond 呀咩 Van der Waals force 好難簡單解釋，不過水稀釋就可以。

自然療法最喜歡將佢地所謂既藥稀釋好多倍，然後話佢會有療效，因為水記憶會記住個療法。好，你依家去茶餐廳叫杯柯華田，個水吧將杯華田溝淡一千倍，然後話水會記住華田既味道，呢杯溝淡左一千倍既華田依然係華田。你唔問候水吧個老母我切。

另一樣野素人父母話依家已經無呢D百日咳呀、麻疹呀、天花呀、小兒麻痺呀。所以打唔打都無問題。我記得醫學治眼同文科生習醫都有講過 Herd Immunity，唔明可以上 Wikipedia 睇。我想講，點解依家無呢堆病呢？當然因為 herd immunity 啦，即係一班人有 95%以上既人有鍛鍊身體有武器，咁你無鍛鍊身體同無武器，佢地都可以保護你。但當有鍛鍊身體有武器既人漸漸流失，你無鍛鍊身體同無武器就好容易受外敵攻擊而死。咁L簡單既道理，根本連唔讀書都應該明白。如果大家都學你地咁，人人唔鍛鍊身體又無買武器，咁就算有武器既人都會受攻擊。

最後，如果你做人乜都怕，乜都驚，乜都要 everything in control，打針驚自閉，出街驚花盤跌落你個頭，咁你唔黐線你下一代都黐線。

#唔寫唔寫又寫左咁長 #是咁的法網肥人召喚 #講下唔接種疫苗而令人病死有乜法律責任呀 #蠢人教唔精

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余海峯 David . 物理喵 phycat

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天體物理學家。於2016年在德國馬克斯・普朗克地外物理研究所取得天體物理學博士學位。曾任瑞典皇家理工學院博士後研究員、台灣物理學會《物理雙月刊》副總編輯。 現任香港大學理學院助理講師，工作包括科研、教學、科學普及。亦擔任《五夜講場-真係好科學》節目主持，以及立場新聞、星匯點、Big Bang Academy之科學顧問。著有《宙》以及《星海璇璣》（皆為花千樹出版）。
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社群媒體上有些相關的討論：

de novo mutation 在 Modes of Inheritance - De Novo - A Primer for Patients & Parents 的推薦與評價

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In this series of videos, Modes of Inheritance, we describe how genetic disorders arise in children. This first video explores De Novo ... ... <看更多>

de novo mutation 在 What is a de novo mutation? Find out below! - SPARK for Autism 的推薦與評價

What is a de novo mutation? Find out below! ... SPARK Clinical Site Spotlight: UM-NSU CARD · SPARK for Autism. 218 views · December 13, 2021. ... <看更多>

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#1. Insights Into de novo Mutation Variation in Lithuanian Exome

由 L Pranckėnienė 著作 · 2018 · 被引用 6 次 — Germline de novo mutations (DNMs) are genetic changes in the individual caused by mutagenesis occurring in parental gametes during oogenesis ...

#2. De novo mutations across 1,465 diverse genomes reveal ...

De novo mutations (DNMs), or mutations that appear in an individual despite not being seen in their parents, are an important source of genetic ...

#3. New insights into the generation and role of de novo ...

This entails that de novo mutations are genetically distinct from inherited variants, as they represent the result of the mutagenic processes ...

#4. Rate of de novo mutations, father's age, and disease risk - NCBI

由 A Kong 著作 · 2012 · 被引用 1996 次 — Mutations generate sequence diversity and provide a substrate for selection. The rate of de novo mutations is therefore of major importance to evolution.

#5. De Novo Mutations Reflect Development and ... - Cell Press

Human germline de novo mutations (DNMs) are both a driver of evolution and an important cause of genetic diseases. In the past few years, ...

#6. De Novo Mutations Reflect Development and ... - Science Direct

Human de novo mutations (DNMs, see Glossary) are germline mutations that newly occurred within one generation. While the vast majority of the genome has ...

#7. What is a gene variant and how do variants occur?

Some genetic changes are described as new (de novo) variants; these variants are recognized in a child but not in either parent.

#8. Gene4Denovo: an integrated database and analytic platform ...

De novo mutations (DNMs) are defined as variants observed in individuals that are not seen in either parent and these types of variants have ...

#9. 外顯子定序研究漸凍人之de novo mutation

De novo mutation (新生變異)目前已被發現於多種神經發育障礙疾病，包含自閉症，精神分裂症及智能障礙等，於Alessandra Chesi的研究中，在47個ALS ...

#10. De novo - Wikipedia

In general usage, de novo (literally 'of new') is Latin expression used in English to mean ... De novo, mutation, an alteration in a gene that is present for the first ...

#11. When bestrophinopathies don't run in the family? - University ...

A de novo mutation is a new change in the gene sequence, which hasn't been present in any previous generations, and does not “run in the family”. In this case ...

#12. De Novo Mutations in Moderate or Severe Intellectual Disability

We and others have recently found that de novo mutations (DNMs; genetic changes not transmitted from the parents) represent a common cause ...

#13. The role of de novo mutations in adult-onset ... - SpringerLink

De novo mutations may occur in any cell. When a DNM occurs in a parent's germ cell, it is present in the fertilized oocyte and hence in ...

#14. De novo mutations in SOD1 are a cause of ALS - Journal of ...

De novo mutations occurring in a parental gonadal cell, in the zygote or postzygotic during embryonal development can result in an apparently sporadic/isolated ...

#15. Should we genotype the sperm of fathers from patients with ...

When de novo mutational events occur prezygotically, mutation may pre-exist in a parent who is mosaic (and usually unaffected), but the mutation ...

#16. De novo variant - Genomics Education Programme

New variants are termed 'de novo variants' and can be caused by chance, impaired DNA repair, or increased mutation of the genome due to ...

#17. denovo-db

denovo -db (current release v.1.6.1) is a collection of germline de novo variants identified in the human genome. de novo variants are those present in ...

#18. De novo mutation - NEJM Illustrated Glossary

De novo mutation. di ˈnōvō myü-ˈtā-shən. Any DNA sequence change that occurs during replication, such as a gene alteration newly occurring in a family as a ...

#19. De novo Mutations and the Lack of Heritability in Birth Defects

The experience in medical genetics suggests that these mutational de novo events will comprise genomic alterations of different size ranging from small changes ...

#20. De novo mutations in isolated RP patients. A - ResearchGate

De novo mutations in isolated RP patients. A: De novo mutation in PRPF31 . In patient 27,790, a heterozygous nonsense mutation was detected in the autosomal ...

#21. Detection of simple and complex de novo mutations with ...

The characterization of de novo mutations in regions of high sequence and structural diversity from whole-genome sequencing data remains highly ...

#22. De novo mutations identified by whole-genome sequencing ...

Obsessive-compulsive disorder (OCD) is a chronic anxiety disorder with a substantial genetic basis and a broadly undiscovered etiology.

#23. SFARI | Tag: de novo mutation - Simons Foundation Autism ...

SFARI | Tag: de novo mutation on SFARI. ... Meta-analysis of de novo mutations yields longer list of risk genes for neurodevelopmental disorders.

#24. De novo mutation in reproductive lineage cells - Kyushu ...

Because the re-sequencing method by NGS covers all of the genome, it enables detection of the small number of spontaneous de novo germline mutations that ...

#25. Modes of Inheritance - De Novo - A Primer for Patients & Parents

In this series of videos, Modes of Inheritance, we describe how genetic disorders arise in children. This first video explores De Novo ...

#26. De Novo Mutation: Disease Bioinformatics - Novus Biologicals

Learn more about De Novo Mutation from related diseases, pathways, genes and PTMs with the Novus Bioinformatics Tool.

#27. Autism study finds de novo mutations associated with motor ...

A team of researchers affiliated with several institutions in the U.S. has found an association between de novo mutations and motor skills ...

#28. Maternal Famine, De Novo Mutations, and Schizophrenia

Prenatal folate deficiency may lead to vulnerability to de novo mutation, either germline or somatic in the developing fetus. Such mutations ...

#29. What is a de novo mutation? Find out below! - SPARK for Autism

What is a de novo mutation? Find out below! ... SPARK Clinical Site Spotlight: UM-NSU CARD · SPARK for Autism. 218 views · December 13, 2021.

#30. Germline de novo mutation clusters arise during oocyte aging ...

Germline de novo mutation clusters arise during oocyte aging in genomic regions with increased double-strand break incidence.

#31. De novo mutations in epileptic encephalopathies - Research ...

Among these are GABRB3, with de novo mutations in four patients, and ALG13, with the same de novo mutation in two patients; both genes show clear statistical ...

#32. De novo and inherited mutations in the X-linked gene CLCN4 ...

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and.

#33. Abstract 19832: De Novo Mutations in Arrhythmogenic Right ...

Conclusions: Mutations in desmosomal genes underlying ARVC are rarely de novo and when de novo may disproportionately be whole gene deletions.

#34. Highly successful preimplantation genetic diagnosis for ...

... genetic diagnosis for individuals with de novo mutations ... the family's embryos to set genetic phase for the familial mutation.

#35. De novo - Definition and Examples | Biology Online

De novo mutation : a phrase in genetics that means a form of a genetic mutation that occurs for the first time in a family member.

#36. 搜索

De novo mutation rates at the single-mutation resolution in a human HBB gene-region associated with adaptation and genetic disease

#37. Integrating de novo and inherited variants in over ... - medRxiv

Integrating de novo and inherited variants in over 42,607 autism cases identifies mutations in new moderate risk genes.

#38. User's Guide to TADA: Transmission and De Novo Assoication ...

TADA (Transmission And De novo Association test) is a Bayesian model that effectively combines data from de novo mutations, inherited variants in families, ...

#39. De novo mutation screening in childhood-onset cerebellar ...

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene · 1 IGF - Institut de ...

#40. De novo mutations identified by exome sequencing implicate ...

De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia. GRP Investigators, Elliott Rees, Jun Han, ...

#41. Genome Biology: Techniques to study de novo mutations

Techniques to study de novo mutations. The rapid development of new DNA sequencing technologies during the last 15 years has fundamentally changed how we ...

#42. ATP1A1 de novo mutation-related disorders - X-MOL

This study aims to summarize the clinical and genetic features of ATP1A1 de novo mutation-related disorders and explore the potential ...

#43. What is a de novo mutation? - Dravet Syndrome Foundation

What is a de novo mutation? Click edit button to change this text. By admin|2017-08-28T23:47:40-05:00August 28th, 2017|Categories: Genetics| ...

#44. Excess of de novo deleterious mutations in genes associated ...

Little is known about the genetics of nonsyndromic intellectual disability (NSID). We hypothesized that de novo mutations (DNMs) in synaptic genes explain an ...

#45. Finding the difference: de novo mutations in schizophrenia

The authors performed exome sequencing and looked a de novo mutations. The control trios provide an interesting baseline to compare the ...

#46. De novo mutation - The Free Dictionary

a. A change in the nucleotide sequence of the genome of an organism or virus, sometimes resulting in the appearance of a new character or trait not found in the ...

#47. de-novo Mutation | Humangenetisches Glossar - Das ...

de -novo Mutation: Neu entstandene Mutation, die nicht von einem Elternteil geerbt wurde. Der Begriff wird sowohl bei Genmutationen wie auch bei ...

#48. De novo mutations and human disease - MassGenomics

De novo mutations tend to be more deleterious than inherited variation because they haven't undergone the same level of evolutionary selection.

#49. DeNovoGear: de novo indel and point mutation discovery and ...

We present DeNovoGear software for analyzing de novo mutations from familial and somatic tissue sequencing data. DeNovoGear uses likelihood-based error ...

#50. De novo mutation in the dopamine transporter gene ...

De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder. / Hamilton, P J; Campbell, N G; Sharma, S; ...

#51. [유전학 중요개념 정리] De novo mutation의 발생 기전과 질병 ...

De novo mutation (DNM; Of new의 라틴어 표기)은 양쪽 부모로부터 물려 받은 inherited variant와 달리, 글자 그대로 proband에서 새롭게 나타난 ...

#52. Marfan syndrome: whole-exome sequencing reveals de novo ...

More than 90% of patients diagnosed with MFS revealed mutations in the FBN1 gene [3,4]. Clinically MFS patients with FBN1 mutation(s), express a ...

#53. De novo mutations in autism - Wiring the Brain

A trio of papers in this week's Nature identifies mutations causing autism in four new genes, demonstrate the importance of de novo mutations in the ...

#54. De novo mutations in schizophrenia implicate synaptic networks

Inherited alleles account for most of the genetic risk for schizophrenia. However, new (de novo) mutations, in the form of large chromosomal ...

#55. "A de novo mutation in the beta-Tubulin gene TUBB4A results ...

A de novo mutation in the beta-Tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with adrophy of the basal ganglia and ...

#56. A novel de novo mutation in the desmin gene ... - Neurology

Serologic study and DNA markers confirmed the de novo mutation. A peptide harboring desmin rod domains 2A and 2B with L385P tagged with green fluorescent ...

#57. de novo mutation：バイオキーワード集｜実験医学online

de novo mutation ... de novo突然変異，新規突然変異．親の生殖細胞（精子あるいは卵子）または胚形成早期の受精卵における突然変異の結果，ある家系員からはじめてみられる ...

#58. De novo Mutationen verursachen mehr als die Hälfte ...

Vor etwa 15 Jahren beschrieben sie und ihre Kollegen erstmals eine seltene de novo Mutation, die für ein bis zwei Prozent der Fälle von ...

#59. Groundbreaking study uncovers first evidence | EurekAlert!

The HbS mutation originated de novo not only much faster than expected from random mutation, but also much faster in the population (in sub- ...

#60. De novo mutations in protein kinase genes CAMK2A and ...

De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability. Collaboration with CHU de Nantes Hôtel-Dieu.

#61. Clinical and molecular consequences of disease-associated ...

Search. Publications; Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Clinical and molecular consequences of ...

#62. Decoding germline de novo point mutations | Semantic Scholar

Analysis of a large whole-genome sequencing data set of 36441 high-quality de novo mutations (DNMs) that arose in 816 family trios provides ...

#63. 16. De Novo Mutations - Web Books Publishing

A de novo mutation is a new mutation that occurs in a germ cell and is then passed on to an offspring. All germline mutations started as a de novo mutation in ...

#64. Hereditary spherocytosis: Genetics - AboutKidsHealth

A person can inherit HS through an autosomal dominant inheritance, autosomal recessive inheritance, or a de novo mutation. A de novo mutation ...

#65. de novo Mutation - The Titi Tudorancea Bulletin

Definition of de novo Mutation in the Titi Tudorancea Encyclopedia. Meaning of de novo Mutation. What does de novo Mutation mean? Proper usage and sense of ...

#66. Pseudoachondroplasia - NORD (National Organization for ...

Approximately 70% of cases occur as a new (sporadic or de novo) mutation, which means that in the majority of cases, the gene mutation occurred at the time of ...

#67. Genetic evidence equating SRY and the testis-determining ...

A de novo mutation was found in the SRY gene of one XY female: this mutation was not present in the patient's normal father and brother.

#68. De Novo Genome Assembly | DNASTAR

Use Lasergene Genomics for easy and accurate de novo genome assembly. ... PVL overexpression due to genomic rearrangements and mutations in the S. aureus ...

#69. HIV Sequencing Study in Netherlands Uncovers Virulent ...

Along with analyses focused on de novo mutations contributing to virulence and transmissibility, researchers traced the HIV-1 VB variant ...

#70. De novo design, retrosynthetic analysis and combinatorial ...

De novo design, retrosynthetic analysis and combinatorial synthesis of a hybrid antiviral (VTAR-01) to inhibit the interaction of SARS-CoV2 spike ...

#71. Are genetic mutations random in humans? Israeli study says no

Is the view by neo-Darwinists, that genetic mutations in human genes are ... "The HbS mutation originated de novo not only much faster than ...

#72. Highly Virulent HIV-1 Variant That Causes Rapid T Cell ...

For many years there have been concerns that such mutations may arise in ... that this variant arose in the 1990s from de novo mutation, ...

#73. Biologists surprised to discover that some "random" mutations ...

For humans, this means that mutations from the entirely ... "The HbS mutation originated de novo not only much faster than expected from ...

#74. Article Recommendations - Faculty Opinions

Rate of de novo mutations and the importance of father's age to disease risk. Recommended. 127.1. Kong A et al.2012 Aug 23. Latest recommendation by: ...

#75. Highly Virulent HIV Variant Discovered in the Netherlands

... endemic diseases, undergo a similar process of mutation. ... occurring through de novo mutations rather than recombination.

#76. New study suggests genetic mutations are NOT always random

The HbS mutation originated de novo much faster than expected from random mutations, but also much faster in the population. They also evolved ...

#77. Groundbreaking study challenges evolutionary theory, says ...

Hearing loss has been linked to mutations in at least 100 different genes, ... The HbS mutation originated de novo not only much faster than ...

#78. New, Highly Virulent HIV Variant Found in the Netherlands

As the world continues to monitor the mutations of SARS-CoV-2, ... arose in the 1990s from de novo mutation rather than recombination.

#79. A role for de novo mutations in Parkinson's Disease - The ...

We have just published in Human Molecular Genetics the first study that looked at non-inherited genetic causes of Parkinson's Disease (PD).

#80. Single domain camel antibodies: current status - Denovo ...

The presence of hotspots for somatic mutation in the codons 27 and 29 in the germline VHH sequences, but not in the VH sequences, of dromedary supports the ...

#81. What does de novo mean in medical terms? - Raiseupwa.com

At least, de novo means “new” when applied to coronary-artery lesions. ... Also called de novo variant, new mutation, and new variant.

#82. letter - 中国科技论文在线

three Chinese families for mutations in HSF4 (a gene at this ... have this mutation; thus, this is a de novo mutation (Fig. 2b). The.

#83. Inheritance - Bohring-Opitz Syndrome

De NOVO mutation ... The research by Hoischen et al. (2011) results in a third important conclusion: 3. It is a NOVO mutation; a genetic mutation in the ASXL1 ...

#84. Recruitment of Scc2/4 to double-strand breaks depends on ...

Likewise, it was shown that de novo loading of cohesin at DSBs in ... the accumulation of Smc3 harboring the E1155Q mutation was confined to ...

#85. Spatial genomics enables multi-modal study of clonal ...

Authors, Zhao, T, Chiang, ZD, Morriss, JW, LaFave, LM, Murray, EM, Del Priore, ... preserves local tumour architecture and enables the de novo discovery of ...

#86. Rétinoblastome - Orphanet

Le RB est causé par des mutations inactivatrices des deux allèles de RB1 ... hérité de la mutation RB1 d'un parent, par conséquent une mutation de novo d'un ...

#87. Infertilité masculine : de nouveaux gènes candidats - France ...

Elles seraient le résultat de mutations de novo, qui se produisent dans les cellules sexuelles et bien qu'elles n'aient jamais été observées ...

#88. The origins of TS mutations A family-based genetic study ...

6 De novo mutations Zygote-stage Paternal germline Maternal germline. Zygote is the one-cell stage of the new embryo, just after sperm cell and egg cell ...

#89. HIV variant discovered in Netherlands | CTV News

... variant came from de novo mutation rather than recombination, meaning the mutations are "genetically distinct" from inherited variants.

#90. New highly virulent HIV strain, named VB, found in Netherlands

... new mutations in viral genetic sequences can have significant ... and probably emerged due to de novo mutation and not recombination.

#91. Survival of lung adenocarcinoma patients with malignant ...

There were 296 (66.1%) patients harbouring EGFR mutations, the mutation rates ... De novo T790M mutations were detected in seven (2%) patients by direct ...

#92. COVID-19 | SNS24

Quais são os sinais e sintomas? · febre (temperatura ≥ 38.0ºC) sem outra causa atribuível · tosse de novo, ou agravamento do padrão habitual, ou ...

#93. Repurposing approach with CoV-DrugX Pipeline - OSF

de novo drug development is more expensive and time-consuming. ... mobile genetic elements and mutations in cancers and other diseases.

#94. 1 The PATRIC Bioinformatics Resource Center - OSTI.GOV

shared protein families de novo for a genome group using BLAST (28) and HMMER (29) to ... mutation distances based on shared k‐mers.

#95. Anavex Stock: Misunderstood Data & Possible FDA Meeting ...

Rett Syndrome is a rare genetic mutation that affects brain ... as a result of a de-novo mutation of the MeCP2, CDKL5, and FOXG1 genes.