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+55
@@ -0,0 +1,55 @@
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---
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||||
title: "Budget Preparation for Research Grants"
|
||||
task: ""
|
||||
lineage_type: import
|
||||
upstream_source: https://github.com/K-Dense-AI/scientific-agent-skills/blob/708d419d/scientific-skills/research-grants/references/budget_preparation.md
|
||||
upstream_sha: 708d419d
|
||||
imported_at: 2026-07-13
|
||||
prompt_class: unknown
|
||||
upstream_changes: accepted
|
||||
author: upstream
|
||||
validated: false
|
||||
---
|
||||
|
||||
# Budget Preparation for Research Grants
|
||||
|
||||
## Purpose
|
||||
|
||||
The budget translates the research plan into a credible resource plan. Reviewers and program staff use it to judge whether the scope, staffing, timeline, and requested funds are aligned.
|
||||
|
||||
## Core Budget Categories
|
||||
|
||||
- **Personnel**: PI, co-investigators, staff, postdocs, students, consultants, and fringe benefits.
|
||||
- **Equipment**: Durable items that meet the agency and institutional equipment threshold.
|
||||
- **Materials and supplies**: Consumables, reagents, software, cloud credits, and lab supplies.
|
||||
- **Travel**: Fieldwork, collaboration visits, required meetings, and conference dissemination.
|
||||
- **Participant or patient costs**: Recruitment, incentives, clinical costs, and related services.
|
||||
- **Publication and dissemination**: Open-access fees, data hosting, workshops, and outreach.
|
||||
- **Subawards**: Collaborating institution work with their own direct and indirect costs.
|
||||
- **Indirect costs**: Facilities and administrative costs under the institutional negotiated rate.
|
||||
|
||||
## Preparation Workflow
|
||||
|
||||
1. Build the work breakdown from aims, tasks, milestones, and deliverables.
|
||||
2. Map each task to people, effort, supplies, services, equipment, and travel.
|
||||
3. Check agency caps, unallowable costs, cost-sharing rules, and budget format.
|
||||
4. Validate institutional rates for salary escalation, fringe, tuition, and indirect costs.
|
||||
5. Reconcile the budget against the narrative, timeline, biosketches, and facilities section.
|
||||
|
||||
## Budget Justification Checklist
|
||||
|
||||
- Every major cost is necessary for a named task or milestone.
|
||||
- Personnel effort matches roles described in the project plan.
|
||||
- Equipment requests explain why existing resources are insufficient.
|
||||
- Travel has a clear project purpose, not generic conference attendance.
|
||||
- Subawards include a distinct scope of work and responsible lead.
|
||||
- Year-to-year changes are explained.
|
||||
- Cost sharing is included only when required or strategically justified.
|
||||
|
||||
## Common Pitfalls
|
||||
|
||||
- Asking for resources not mentioned in the research strategy.
|
||||
- Under-budgeting staff time for data management, compliance, or coordination.
|
||||
- Omitting publication, computing, storage, animal, participant, or core facility costs.
|
||||
- Using unexplained round numbers.
|
||||
- Ignoring agency-specific caps or modular budget constraints.
|
||||
+55
@@ -0,0 +1,55 @@
|
||||
---
|
||||
title: "Funding Mechanisms Overview"
|
||||
task: ""
|
||||
lineage_type: import
|
||||
upstream_source: https://github.com/K-Dense-AI/scientific-agent-skills/blob/708d419d/scientific-skills/research-grants/references/funding_mechanisms.md
|
||||
upstream_sha: 708d419d
|
||||
imported_at: 2026-07-13
|
||||
prompt_class: unknown
|
||||
upstream_changes: accepted
|
||||
author: upstream
|
||||
validated: false
|
||||
---
|
||||
|
||||
# Funding Mechanisms Overview
|
||||
|
||||
## NIH
|
||||
|
||||
- **R01**: Mature research project, typically 3-5 years, substantial preliminary data expected.
|
||||
- **R21**: Exploratory or high-risk work, shorter and smaller than an R01.
|
||||
- **R03**: Small grants for limited-scope projects.
|
||||
- **K awards**: Career development awards with mentoring and training plans.
|
||||
- **F awards**: Individual fellowships for predoctoral or postdoctoral trainees.
|
||||
- **U mechanisms**: Cooperative agreements with substantial NIH program involvement.
|
||||
|
||||
## NSF
|
||||
|
||||
- **Core research programs**: Investigator-initiated proposals within directorate programs.
|
||||
- **CAREER**: Early-career faculty award integrating research and education.
|
||||
- **EAGER**: Exploratory, high-risk, potentially transformative work.
|
||||
- **RAPID**: Urgent research with time-sensitive opportunity.
|
||||
- **Center or institute programs**: Larger, collaborative, multi-investigator efforts.
|
||||
|
||||
## DOE
|
||||
|
||||
- **Office of Science FOAs**: Basic research aligned with office priorities.
|
||||
- **Early Career Research Program**: Support for outstanding early-career scientists.
|
||||
- **ARPA-E**: High-risk energy technology with commercialization or transition potential.
|
||||
- **National laboratory collaborations**: Mechanisms involving DOE lab capabilities or user facilities.
|
||||
|
||||
## DARPA
|
||||
|
||||
- **BAA responses**: Program-specific proposals against broad agency announcements.
|
||||
- **Seedlings or exploratory calls**: Shorter early-stage efforts when available.
|
||||
- **Young Faculty Award**: Early-career faculty with high-risk ideas relevant to DARPA.
|
||||
|
||||
## Selection Guidance
|
||||
|
||||
Choose a mechanism by matching:
|
||||
|
||||
- Project maturity and preliminary data.
|
||||
- Risk level and expected payoff.
|
||||
- Team career stage.
|
||||
- Budget and duration needs.
|
||||
- Agency mission fit.
|
||||
- Review culture and success criteria.
|
||||
+50
@@ -0,0 +1,50 @@
|
||||
---
|
||||
title: "Research Methods in Grant Proposals"
|
||||
task: ""
|
||||
lineage_type: import
|
||||
upstream_source: https://github.com/K-Dense-AI/scientific-agent-skills/blob/708d419d/scientific-skills/research-grants/references/research_methods.md
|
||||
upstream_sha: 708d419d
|
||||
imported_at: 2026-07-13
|
||||
prompt_class: unknown
|
||||
upstream_changes: accepted
|
||||
author: upstream
|
||||
validated: false
|
||||
---
|
||||
|
||||
# Research Methods in Grant Proposals
|
||||
|
||||
## Purpose
|
||||
|
||||
The methods section persuades reviewers that the proposed work can answer the research question with rigor, feasibility, and appropriate controls.
|
||||
|
||||
## Essential Components
|
||||
|
||||
- Study design or experimental design.
|
||||
- Data sources, samples, subjects, systems, or models.
|
||||
- Inclusion, exclusion, randomization, blinding, and control conditions where relevant.
|
||||
- Measurements, instruments, assays, algorithms, or protocols.
|
||||
- Statistical or computational analysis plan.
|
||||
- Power, sample size, uncertainty, and sensitivity analysis where appropriate.
|
||||
- Rigor, reproducibility, validation, and quality control.
|
||||
- Alternative approaches for the most likely failure modes.
|
||||
|
||||
## Experimental Research
|
||||
|
||||
Describe biological or physical systems, controls, replicates, reagents, equipment, outcome measures, and analysis methods. Make clear which data support each hypothesis or aim.
|
||||
|
||||
## Computational Research
|
||||
|
||||
Describe datasets, preprocessing, model design, baselines, validation splits, metrics, error analysis, compute resources, software availability, and reproducibility plan.
|
||||
|
||||
## Clinical or Translational Research
|
||||
|
||||
Describe population, recruitment, consent, intervention or exposure, endpoints, monitoring, safety, regulatory approvals, and statistical analysis.
|
||||
|
||||
## Reviewer Checks
|
||||
|
||||
- Does each aim have a concrete method?
|
||||
- Are controls and comparisons sufficient?
|
||||
- Are sample sizes justified?
|
||||
- Are assumptions explicit?
|
||||
- Are risks and alternatives credible?
|
||||
- Can another expert reproduce the work from the description?
|
||||
+54
@@ -0,0 +1,54 @@
|
||||
---
|
||||
title: "Resubmission Strategies"
|
||||
task: ""
|
||||
lineage_type: import
|
||||
upstream_source: https://github.com/K-Dense-AI/scientific-agent-skills/blob/708d419d/scientific-skills/research-grants/references/resubmission_strategies.md
|
||||
upstream_sha: 708d419d
|
||||
imported_at: 2026-07-13
|
||||
prompt_class: unknown
|
||||
upstream_changes: accepted
|
||||
author: upstream
|
||||
validated: false
|
||||
---
|
||||
|
||||
# Resubmission Strategies
|
||||
|
||||
## Purpose
|
||||
|
||||
A resubmission should show that the team understood reviewer concerns, made substantive improvements, and preserved the proposal's central value.
|
||||
|
||||
## First Step
|
||||
|
||||
Read the reviews in three passes:
|
||||
|
||||
1. Identify fatal concerns versus fixable presentation issues.
|
||||
2. Group comments by theme: significance, innovation, approach, team, environment, budget.
|
||||
3. Decide whether to revise, redirect to another mechanism, or build more preliminary data first.
|
||||
|
||||
## NIH A1 Resubmissions
|
||||
|
||||
- Use the introduction page to summarize major changes.
|
||||
- Address all major critiques respectfully and specifically.
|
||||
- Make changes visible through rewritten sections, not track changes.
|
||||
- Strengthen preliminary data, rigor, statistics, or alternatives where requested.
|
||||
- Do not argue with reviewers unless correcting a factual misunderstanding.
|
||||
|
||||
## NSF Resubmissions
|
||||
|
||||
NSF has no universal formal introduction page. Incorporate reviewer feedback into the revised narrative, especially around intellectual merit, broader impacts, feasibility, and clarity.
|
||||
|
||||
## Strong Response Patterns
|
||||
|
||||
- "We clarified..." for communication problems.
|
||||
- "We added preliminary data..." for feasibility concerns.
|
||||
- "We revised Aim 2..." for design concerns.
|
||||
- "We added an alternative strategy..." for risk concerns.
|
||||
- "We recruited collaborator X..." for expertise gaps.
|
||||
|
||||
## When Not to Resubmit Immediately
|
||||
|
||||
- Reviewers rejected the premise rather than the execution.
|
||||
- The mechanism or program fit was poor.
|
||||
- Essential preliminary data are missing.
|
||||
- The team lacks required expertise.
|
||||
- The budget or timeline is not credible without scope reduction.
|
||||
+58
@@ -0,0 +1,58 @@
|
||||
---
|
||||
title: "Comparative Review Criteria"
|
||||
task: ""
|
||||
lineage_type: import
|
||||
upstream_source: https://github.com/K-Dense-AI/scientific-agent-skills/blob/708d419d/scientific-skills/research-grants/references/review_criteria.md
|
||||
upstream_sha: 708d419d
|
||||
imported_at: 2026-07-13
|
||||
prompt_class: unknown
|
||||
upstream_changes: accepted
|
||||
author: upstream
|
||||
validated: false
|
||||
---
|
||||
|
||||
# Comparative Review Criteria
|
||||
|
||||
## NSF
|
||||
|
||||
NSF proposals are reviewed on **Intellectual Merit** and **Broader Impacts**. Strong proposals make both criteria explicit in the project summary, project description, and evaluation plan.
|
||||
|
||||
- Intellectual Merit: importance, originality, technical rigor, qualifications, and resources.
|
||||
- Broader Impacts: societal benefit, education, workforce development, participation, dissemination, and infrastructure.
|
||||
|
||||
## NIH
|
||||
|
||||
Most NIH research project grants receive an overall impact score informed by five scored criteria.
|
||||
|
||||
- Significance: importance of the problem and likely impact.
|
||||
- Investigator(s): expertise, productivity, and team suitability.
|
||||
- Innovation: conceptual, technical, or methodological novelty.
|
||||
- Approach: rigor, feasibility, alternatives, statistics, and risk handling.
|
||||
- Environment: institutional support, facilities, and collaborative setting.
|
||||
|
||||
Reviewers also assess protections for human subjects, vertebrate animals, biohazards, authentication, data management, and rigor and reproducibility.
|
||||
|
||||
## DOE
|
||||
|
||||
DOE review criteria vary by office and FOA, but commonly emphasize scientific and technical merit, relevance to program mission, applicant qualifications, adequacy of resources, and reasonableness of budget.
|
||||
|
||||
Competitive DOE proposals connect the scientific question to the office mission, national laboratory or user facility context when relevant, and measurable outcomes.
|
||||
|
||||
## DARPA
|
||||
|
||||
DARPA reviews focus on whether the work attacks a DARPA-hard problem with high payoff, credible technical milestones, and a path to transition.
|
||||
|
||||
- Technical innovation and risk.
|
||||
- Potential impact if successful.
|
||||
- Measurable milestones and demonstration plan.
|
||||
- Team capability and execution speed.
|
||||
- Transition relevance to defense or national-security users.
|
||||
|
||||
## Cross-Agency Reviewer Questions
|
||||
|
||||
- What important problem does this solve?
|
||||
- Why is now the right time?
|
||||
- Why is this team the right team?
|
||||
- What makes the approach credible?
|
||||
- What can go wrong, and what is the fallback?
|
||||
- What will be true at the end of the award that is not true today?
|
||||
+52
@@ -0,0 +1,52 @@
|
||||
---
|
||||
title: "Team Building for Research Grants"
|
||||
task: ""
|
||||
lineage_type: import
|
||||
upstream_source: https://github.com/K-Dense-AI/scientific-agent-skills/blob/708d419d/scientific-skills/research-grants/references/team_building.md
|
||||
upstream_sha: 708d419d
|
||||
imported_at: 2026-07-13
|
||||
prompt_class: unknown
|
||||
upstream_changes: accepted
|
||||
author: upstream
|
||||
validated: false
|
||||
---
|
||||
|
||||
# Team Building for Research Grants
|
||||
|
||||
## Purpose
|
||||
|
||||
The team section should convince reviewers that the proposed work has the right expertise, leadership, collaboration structure, and institutional support.
|
||||
|
||||
## Team Design Questions
|
||||
|
||||
- What expertise is essential for each aim?
|
||||
- Which roles must be senior investigators versus staff or trainees?
|
||||
- Where are the methodological, clinical, computational, or translational gaps?
|
||||
- What facilities, cores, field sites, datasets, or partnerships are required?
|
||||
- Who owns coordination, data management, compliance, and dissemination?
|
||||
|
||||
## Roles to Define
|
||||
|
||||
- Principal investigator or project lead.
|
||||
- Co-investigators and senior/key personnel.
|
||||
- Collaborators and consultants.
|
||||
- Project manager or coordinator.
|
||||
- Data, software, statistics, or evaluation leads.
|
||||
- Trainees and mentoring structure.
|
||||
- External advisory board, if appropriate.
|
||||
|
||||
## Evidence of Fit
|
||||
|
||||
- Prior publications or preliminary data in the area.
|
||||
- Complementary expertise across aims.
|
||||
- Prior collaboration or a clear collaboration plan.
|
||||
- Letters that commit specific resources or activities.
|
||||
- Institutional support, facilities, and protected time.
|
||||
|
||||
## Common Pitfalls
|
||||
|
||||
- Adding famous names without defined roles.
|
||||
- Missing key expertise for a high-risk method.
|
||||
- Overloading the PI with all tasks.
|
||||
- Providing generic letters of support.
|
||||
- Failing to explain how multi-site coordination will work.
|
||||
+51
@@ -0,0 +1,51 @@
|
||||
---
|
||||
title: "Timeline Planning for Research Grants"
|
||||
task: ""
|
||||
lineage_type: import
|
||||
upstream_source: https://github.com/K-Dense-AI/scientific-agent-skills/blob/708d419d/scientific-skills/research-grants/references/timeline_planning.md
|
||||
upstream_sha: 708d419d
|
||||
imported_at: 2026-07-13
|
||||
prompt_class: unknown
|
||||
upstream_changes: accepted
|
||||
author: upstream
|
||||
validated: false
|
||||
---
|
||||
|
||||
# Timeline Planning for Research Grants
|
||||
|
||||
## Purpose
|
||||
|
||||
A timeline shows that the project is executable within the award period. It should connect aims, milestones, personnel, dependencies, deliverables, and decision points.
|
||||
|
||||
## Timeline Elements
|
||||
|
||||
- **Aims and tasks**: Break each aim into concrete work packages.
|
||||
- **Milestones**: Define measurable completion points, not just activities.
|
||||
- **Dependencies**: Identify tasks that require prior data, approvals, hires, or equipment.
|
||||
- **Decision points**: Specify go/no-go thresholds and alternatives.
|
||||
- **Deliverables**: Publications, datasets, software, prototypes, reports, or demonstrations.
|
||||
- **Compliance gates**: IRB, IACUC, data-use agreements, safety reviews, and export controls.
|
||||
|
||||
## Planning Pattern
|
||||
|
||||
1. List all aims and sub-aims.
|
||||
2. Assign each task to a quarter or project period.
|
||||
3. Add hiring, procurement, regulatory, and setup lead times.
|
||||
4. Mark dependencies between tasks.
|
||||
5. Define success metrics for each milestone.
|
||||
6. Add contingency paths for high-risk tasks.
|
||||
|
||||
## Agency Emphasis
|
||||
|
||||
- **NSF**: Integrate research, education, broader impacts, evaluation, and dissemination.
|
||||
- **NIH**: Show feasibility for enrollment, experiments, analysis, rigor, and data sharing.
|
||||
- **DOE**: Align tasks with program deliverables, user facilities, and reporting periods.
|
||||
- **DARPA**: Use aggressive but credible phases with quantitative milestones and demos.
|
||||
|
||||
## Common Pitfalls
|
||||
|
||||
- Treating the timeline as a decorative Gantt chart rather than an execution plan.
|
||||
- Scheduling major approvals after dependent work begins.
|
||||
- Omitting time for hiring, onboarding, equipment procurement, or data-use agreements.
|
||||
- Making all aims run sequentially when parallel work is possible.
|
||||
- Failing to define what happens if a milestone is missed.
|
||||
@@ -1,8 +1,8 @@
|
||||
---
|
||||
lineage_type: import
|
||||
upstream_source: https://github.com/K-Dense-AI/scientific-agent-skills/blob/0807ddbc/skills/onekgpd/SKILL.md
|
||||
upstream_sha: 0807ddbc
|
||||
imported_at: 2026-06-30
|
||||
upstream_source: https://github.com/K-Dense-AI/scientific-agent-skills/blob/708d419d/skills/onekgpd/SKILL.md
|
||||
upstream_sha: 708d419d
|
||||
imported_at: 2026-07-13
|
||||
prompt_class: unknown
|
||||
upstream_changes: accepted
|
||||
name: onekgpd
|
||||
@@ -17,9 +17,9 @@ description: >
|
||||
Variants are returned with 1000 Genomes allele frequencies (AF),
|
||||
gnomAD v4.1 exome and genome AF, AlphaMissense score, and HGVSp annotations.
|
||||
license: MIT
|
||||
compatibility: Requires Python >=3.12. Variant and sample queries require outbound network access to the public 1000 Genomes query endpoint over TLS; the sample/population metadata commands run fully offline over a data file bundled in the skill. No credentials, API keys, or environment variables are used.
|
||||
compatibility: Requires Python >=3.11. Variant and sample queries require outbound network access to the public 1000 Genomes query endpoint over TLS; the sample/population metadata commands run fully offline over a data file bundled in the skill. No credentials, API keys, or environment variables are used.
|
||||
allowed-tools: Write Bash
|
||||
metadata: {"version": "1.0", "skill-author": "Dnaerys"}
|
||||
metadata: {"version": "1.2", "skill-author": "Dnaerys"}
|
||||
---
|
||||
|
||||
# OneKGPd: Individual-Level Queries over the 1000 Genomes Project
|
||||
@@ -189,6 +189,9 @@ filtering is not necessarily echoed back on the returned variant.
|
||||
> `--gnomad-exomes-af-gt 0` selects variants that *are* in gnomAD exomes; a
|
||||
> returned `gnomad_exomes_af` of `0.0` means the variant is absent from gnomAD
|
||||
> exomes. The same convention for gnomAD genomes AF.
|
||||
> Conversely, `--gnomad-exomes-af-lt` / `--gnomad-genomes-af-lt` bounds **include**
|
||||
unannotated variants: "AF < X in gnomAD" includes variants with gnomAD AF = 0,
|
||||
i.e. unannotated; pair it with `--gnomad-*-af-gt 0` to require presence in gnomAD.
|
||||
|
||||
> [!NOTE]
|
||||
> `am_score` of `0.0` means not scored or not annotated by AlphaMissense - it does not mean `benign`.
|
||||
@@ -236,7 +239,7 @@ The full per-flag tables live in
|
||||
|
||||
- `count-variants` — count variants in a region, cohort-wide.
|
||||
- `select-variants` — select variants in a region, cohort-wide. Use `--limit N`
|
||||
(hard cap, default 1000) **or** `--page-size N` (retrieve the full set in
|
||||
(hard cap, default 200) **or** `--page-size N` (retrieve the full set in
|
||||
pages); the two are mutually exclusive. The summary flags `truncated` when
|
||||
the cap is reached.
|
||||
- `count-variants-in-samples` — as `count-variants`, restricted to
|
||||
@@ -244,9 +247,11 @@ The full per-flag tables live in
|
||||
- `select-variants-in-samples` — as `select-variants`, restricted to
|
||||
`--samples NAME1,NAME2,...` (required).
|
||||
|
||||
Each returned variant carries these 19 keys: `chr`, `start`, `end`, `ref`,
|
||||
`alt`, `af`, `ac`, `an`, `homc`, `hetc`, `misc`, `homfc`, `hetfc`, `misfc`,
|
||||
`gnomad_exomes_af`, `gnomad_genomes_af`, `am_score`, `amino_acids`, `biallelic`.
|
||||
Each returned variant carries these 22 keys: `chr`, `start`, `end`, `ref`,
|
||||
`alt`, `af`, `ac`, `an`, `hom_samples`, `het_samples`, `mis_samples`,
|
||||
`hom_samples_fx`, `het_samples_fx`, `mis_samples_fx`, `hom_samples_mxy`,
|
||||
`het_samples_mxy`, `mis_samples_mxy`, `gnomad_exomes_af`, `gnomad_genomes_af`,
|
||||
`am_score`, `amino_acids`, `biallelic`.
|
||||
ClinVar significance and VEP consequence are filter criteria only and are not
|
||||
returned. Full schema:
|
||||
[references/onekgpd_commands.md](references/onekgpd_commands.md).
|
||||
|
||||
+19
-12
@@ -2,9 +2,9 @@
|
||||
title: "OneKGPd command reference"
|
||||
task: ""
|
||||
lineage_type: import
|
||||
upstream_source: https://github.com/K-Dense-AI/scientific-agent-skills/blob/0807ddbc/skills/onekgpd/references/onekgpd_commands.md
|
||||
upstream_sha: 0807ddbc
|
||||
imported_at: 2026-06-30
|
||||
upstream_source: https://github.com/K-Dense-AI/scientific-agent-skills/blob/708d419d/skills/onekgpd/references/onekgpd_commands.md
|
||||
upstream_sha: 708d419d
|
||||
imported_at: 2026-07-13
|
||||
prompt_class: unknown
|
||||
upstream_changes: accepted
|
||||
author: upstream
|
||||
@@ -84,6 +84,10 @@ Mutual exclusions enforced: `--biallelic-only`/`--multiallelic-only`,
|
||||
AlphaMissense score bounds. Setting a `*-gt` ≥ its matching `*-lt` defines an
|
||||
empty range and returns nothing.
|
||||
|
||||
The `--gnomad-exomes-af-lt` / `--gnomad-genomes-af-lt` bounds **include** unannotated
|
||||
variants: "AF < X in gnomAD" includes variants with gnomAD AF = 0, i.e. unannotated;
|
||||
pair it with `--gnomad-*-af-gt 0` to require presence in gnomAD.
|
||||
|
||||
---
|
||||
|
||||
## Commands
|
||||
@@ -196,19 +200,22 @@ and VEP consequence are **not** echoed back on a returned variant):
|
||||
| `end` | int | 1-based inclusive end. |
|
||||
| `ref` | str | Reference allele. |
|
||||
| `alt` | str | Alternate allele. |
|
||||
| `af` | float | 1000 Genomes dataset allele frequency. |
|
||||
| `ac` | float | Dataset allele count (0.5 for male non-PAR het calls on sex chromosomes). |
|
||||
| `af` | float | Dataset allele frequency. |
|
||||
| `ac` | float | Dataset allele count (0.5 for male non-PAR het calls on on X and Y chromosomes). |
|
||||
| `an` | int | Dataset allele number. |
|
||||
| `homc` | int | Homozygous allele count. |
|
||||
| `hetc` | int | Heterozygous allele count. |
|
||||
| `misc` | int | Missing (no-call) allele count. |
|
||||
| `homfc` | int | Female homozygous count (sex chromosomes). |
|
||||
| `hetfc` | int | Female heterozygous count (sex chromosomes). |
|
||||
| `misfc` | int | Female missing count (sex chromosomes). |
|
||||
| `hom_samples` | int | Number of all samples with a homozygous genotype. |
|
||||
| `het_samples` | int | Number of all samples with a heterozygous genotype. |
|
||||
| `mis_samples` | int | Number of all samples with a missing (no-call) genotype. |
|
||||
| `hom_samples_fx` | int | Number of female samples with a homozygous genotype, X chromosome only (0 outside X). |
|
||||
| `het_samples_fx` | int | Number of female samples with a heterozygous genotype, X chromosome only (0 outside X). |
|
||||
| `mis_samples_fx` | int | Number of female samples with a missing (no-call) genotype, X chromosome only (0 outside X). |
|
||||
| `hom_samples_mxy` | int | Number of male samples with a homozygous genotype, X & Y chromosomes only (0 outside X and Y). |
|
||||
| `het_samples_mxy` | int | Number of male samples with a heterozygous genotype, X & Y chromosomes only (0 outside X and Y). |
|
||||
| `mis_samples_mxy` | int | Number of male samples with a missing (no-call) genotype, X & Y chromosomes only (0 outside X and Y). |
|
||||
| `gnomad_exomes_af` | float | gnomAD v4.1 exomes AF. `0.0` = absent from gnomAD exomes. |
|
||||
| `gnomad_genomes_af` | float | gnomAD v4.1 genomes AF. `0.0` = absent from gnomAD genomes. |
|
||||
| `am_score` | float | AlphaMissense score. `0.0` = not annotated. |
|
||||
| `amino_acids` | str | Amino-acid substitution (HGVSp / VEP `Amino_acids`). |
|
||||
| `amino_acids` | str | HGVSp Amino-acid substitution. |
|
||||
| `biallelic` | bool | Whether the site was biallelic in the input VCFs. |
|
||||
|
||||
---
|
||||
|
||||
Reference in New Issue
Block a user