alzhub.org
Get help now — free helplines

You can call any of these for free. You do not need a diagnosis, an appointment, or a crisis to call — questions and plain exhaustion are reasons enough.

  • Alzheimer's Association 24/7 Helpline 800-272-3900 24 hours a day, 365 days a year Free, confidential support and information for people with dementia, caregivers, families and the public. Master's-level clinicians. Also Spanish.
  • 988 Suicide & Crisis Lifeline 988 24/7 Call or text 988, or chat at 988lifeline.org. For anyone in emotional distress or a mental-health crisis, including caregivers.
  • Alzheimer's Foundation of America (AFA) Helpline 866-232-8484 9:00 am - 9:00 pm ET, seven days a week Licensed social workers providing support, info and referrals. Also text message and web chat. Text: 646-586-5283

In a medical emergency, call 911. More numbers, and what each line does, on the help page.

Home › Research › Topics › rare-variants

rare-variants

5 studies tagged rare-variants, dated 2015-08-22 to 2020-01-01. Bibliography: BibTeX (.bib) · RIS (.ris)

Newest in this topic

  1. Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through Multiple Phenotypes 2020-01-01
  2. Plasma levels of soluble TREM2 and neurofilament light chain in TREM2 rare variant carriers 2019-11-28
  3. Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease 2018-05-24

Studies

5 studies carry this tag.

Date range

2015 to 2020

Top journals

  • Alzheimer's research & therapy 1
  • Annals of clinical and translational neurology 1
  • Current opinion in genetics & development 1
  • Human heredity 1
  • Journal of Alzheimer's disease : JAD 1

Newest first, then by address. Each study has a usefulness score out of 100 (rubric version 4.0); tap a score to see what makes it up. Tags were assigned automatically from each study's title and summary. The same studies as a filter in the library.

  1. Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through Multiple Phenotypes

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. Journal of Alzheimer's disease : JAD 2020-01-01 TREM2 and immune genetics

    The results of this study highlight the importance of including biomarkers and alternative phenotypes to better understand the role of novel candidate genes with the disease.

  2. Plasma levels of soluble TREM2 and neurofilament light chain in TREM2 rare variant carriers

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. Alzheimer's research & therapy 2019-11-28 TREM2 and immune genetics

    Concentrations of plasma sTREM2 do not mimic the recent changes found in CSF sTREM2.

  3. Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease

    ✓ Peer-reviewed alzhub usefulness score 72 out of 100. Annals of clinical and translational neurology 2018-05-24 Genetics

    This study implicates ultra-rare, loss-of-function variants in SORL1 as a significant genetic risk factor for Alzheimer's disease and provides a comprehensive dataset comparing the burden of rare variation in nearly all human genes in Alzheimer's disease cases and controls.

  4. From Common to Rare Variants: The Genetic Component of Alzheimer Disease

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. Human heredity 2016-12-22 TREM2 and immune genetics

    Alzheimer disease (AD) is a remarkable example of genetic heterogeneity.

  5. Alzheimer's disease: rare variants with large effect sizes

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. Current opinion in genetics & development 2015-08-22 TREM2 and immune genetics

    Recent advances in sequencing technology and novel genotyping arrays (focused on low-frequency and coding variants) have made it possible to identify novel coding variants with large effect sizes and also novel genes (TREM2, PLD3, UNC5C, and AKAP9) associated with Alzheimer's disease (AD) risk.

All topic tags with their study counts