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Home › Research › Topics › sequencing

sequencing

4 studies tagged sequencing, dated 2012-08-20 to 2018-08-21. Bibliography: BibTeX (.bib) · RIS (.ris)

Newest in this topic

  1. Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease 2018-08-21
  2. Quality control and integration of genotypes from two calling pipelines for whole genome sequence data in the Alzheimer's disease sequencing project 2018-05-29
  3. Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease 2018-05-24

Studies

4 studies carry this tag.

Date range

2012 to 2018

Top journals

  • Alzheimer's research & therapy 1
  • Annals of clinical and translational neurology 1
  • Genomics 1
  • Molecular neurodegeneration 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. Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. Molecular neurodegeneration 2018-08-21 Genetics

    Our findings indicate that long-read sequencing is well suited to characterizing known repeat expansions, and for discovering new disease-causing, disease-modifying, or risk-modifying repeat expansions that have gone undetected with conventional short-read sequencing.

  2. Quality control and integration of genotypes from two calling pipelines for whole genome sequence data in the Alzheimer's disease sequencing project

    ✓ Peer-reviewed alzhub usefulness score 50 out of 100. Genomics 2018-05-29 Genetics

    The Alzheimer's Disease Sequencing Project (ADSP) performed whole genome sequencing (WGS) of 584 subjects from 111 multiplex families at three sequencing centers.

  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. Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

    ✓ Peer-reviewed alzhub usefulness score 47 out of 100. Alzheimer's research & therapy 2012-08-20 Genetics

    We found pathogenic mutations in PSEN1, GRN and MAPT in 2.33% of the screened cases.

All topic tags with their study counts