diff --git "a/templates/AlphaPOP/score_batch.ipynb" "b/templates/AlphaPOP/score_batch.ipynb" new file mode 100644--- /dev/null +++ "b/templates/AlphaPOP/score_batch.ipynb" @@ -0,0 +1,1422 @@ +{ + "cells": [ + { + "cell_type": "markdown", + "metadata": { + "id": "Vjnah732ZKsd" + }, + "source": [ + "# Batch variant scoring" + ] + }, + { + "cell_type": "markdown", + "metadata": { + "id": "8DVMMApBqEGT" + }, + "source": [ + "In this notebook, we demonstrate how to score many variants using AlphaGenome.\n", + "\n", + "To prepare numerous variants for scoring, provide the following information as\n", + "columns in a tab-separated Variant Call Format (VCF) file: - `variant_id`: A\n", + "unique identifier for each variant. - `CHROM`: Chromosome, specified as a string\n", + "beginning with 'chr' (e.g., 'chr1'). - `POS`: Integer representing the base pair\n", + "position (1-based; build hg38 (human) or mm10 (mouse) - see\n", + "[FAQ](https://www.alphagenomedocs.com/faqs.html#how-do-i-define-a-variant)). -\n", + "`REF`: The reference nucleotide sequence at the specified position. - `ALT`: The\n", + "alternate nucleotide sequence at the specified position." + ] + }, + { + "cell_type": "markdown", + "metadata": { + "id": "H-coxSuBNqDc" + }, + "source": [ + "``` {tip}\n", + "Open this tutorial in Google colab for interactive viewing.\n", + "```" + ] + }, + { + "cell_type": "code", + "execution_count": 1, + "metadata": { + "cellView": "form", + "executionInfo": { + "elapsed": 55, + "status": "ok", + "timestamp": 1753113298483, + "user": { + "displayName": "", + "userId": "" + }, + "user_tz": -60 + }, + "id": "WA7A7CAEJFmZ" + }, + "outputs": [], + "source": [ + "# @title Install AlphaGenome\n", + "\n", + "# @markdown Run this cell to install AlphaGenome.\n", + "from IPython.display import clear_output\n", + "! pip install alphagenome\n", + "clear_output()" + ] + }, + { + "cell_type": "code", + "execution_count": 2, + "metadata": { + "executionInfo": { + "elapsed": 2531, + "status": "ok", + "timestamp": 1753113301166, + "user": { + "displayName": "", + "userId": "" + }, + "user_tz": -60 + }, + "id": "nt721WCQBSyH" + }, + "outputs": [], + "source": [ + "# @title Setup and imports.\n", + "\n", + "from io import StringIO\n", + "from alphagenome import colab_utils\n", + "from alphagenome.data import genome\n", + "from alphagenome.models import dna_client, variant_scorers\n", + "from google.colab import data_table, files\n", + "import pandas as pd\n", + "from tqdm import tqdm\n", + "\n", + "data_table.enable_dataframe_formatter()\n", + "\n", + "# Load the model.\n", + "dna_model = dna_client.create(colab_utils.get_api_key())" + ] + }, + { + "cell_type": "code", + "execution_count": 3, + "metadata": { + "colab": { + "height": 843 + }, + "executionInfo": { + "elapsed": 10501, + "status": "ok", + "timestamp": 1753113311836, + "user": { + "displayName": "", + "userId": "" + }, + "user_tz": -60 + }, + "id": "fNX9Mg80HuPZ", + "outputId": "1707defc-2066-48c7-fc24-cfd3abc562cd" + }, + "outputs": [ + { + "name": "stderr", + "output_type": "stream", + "text": [ + "100%|██████████| 4/4 [00:09\u003c00:00, 2.39s/it]\n" + ] + }, + { + "name": "stdout", + "output_type": "stream", + "text": [ + "Warning: total number of rows (121956) exceeds max_rows (20000). Falling back to pandas display.\n" + ] + }, + { + "data": { + "application/vnd.google.colaboratory.intrinsic+json": { + "type": "dataframe", + "variable_name": "df_scores" + }, + "text/html": [ + "\n", + " \u003cdiv id=\"df-6bf06b5c-580c-4a30-836c-54fbf5012d99\" class=\"colab-df-container\"\u003e\n", + " \u003cdiv\u003e\n", + "\u003cstyle scoped\u003e\n", + " .dataframe tbody tr th:only-of-type {\n", + " vertical-align: middle;\n", + " }\n", + "\n", + " .dataframe tbody tr th {\n", + " vertical-align: top;\n", + " }\n", + "\n", + " .dataframe thead th {\n", + " text-align: right;\n", + " }\n", + "\u003c/style\u003e\n", + "\u003ctable border=\"1\" class=\"dataframe\"\u003e\n", + " \u003cthead\u003e\n", + " \u003ctr style=\"text-align: right;\"\u003e\n", + " \u003cth\u003e\u003c/th\u003e\n", + " \u003cth\u003evariant_id\u003c/th\u003e\n", + " \u003cth\u003escored_interval\u003c/th\u003e\n", + " \u003cth\u003egene_id\u003c/th\u003e\n", + " \u003cth\u003egene_name\u003c/th\u003e\n", + " 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'block' : 'none';\n", + "\n", + " async function convertToInteractive(key) {\n", + " const element = document.querySelector('#df-6bf06b5c-580c-4a30-836c-54fbf5012d99');\n", + " const dataTable =\n", + " await google.colab.kernel.invokeFunction('convertToInteractive',\n", + " [key], {});\n", + " if (!dataTable) return;\n", + "\n", + " const docLinkHtml = 'Like what you see? Visit the ' +\n", + " '\u003ca target=\"_blank\" href=https://colab.research.google.com/notebooks/data_table.ipynb\u003edata table notebook\u003c/a\u003e'\n", + " + ' to learn more about interactive tables.';\n", + " element.innerHTML = '';\n", + " dataTable['output_type'] = 'display_data';\n", + " await google.colab.output.renderOutput(dataTable, element);\n", + " const docLink = document.createElement('div');\n", + " docLink.innerHTML = docLinkHtml;\n", + " element.appendChild(docLink);\n", + " }\n", + " \u003c/script\u003e\n", + " \u003c/div\u003e\n", + "\n", + "\n", + " \u003cdiv id=\"df-63afa612-55f4-422d-bd4d-87c93e448a44\"\u003e\n", + " \u003cbutton class=\"colab-df-quickchart\" onclick=\"quickchart('df-63afa612-55f4-422d-bd4d-87c93e448a44')\"\n", + " title=\"Suggest charts\"\n", + " style=\"display:none;\"\u003e\n", + "\n", + "\u003csvg xmlns=\"http://www.w3.org/2000/svg\" height=\"24px\"viewBox=\"0 0 24 24\"\n", + " width=\"24px\"\u003e\n", + " \u003cg\u003e\n", + " \u003cpath d=\"M19 3H5c-1.1 0-2 .9-2 2v14c0 1.1.9 2 2 2h14c1.1 0 2-.9 2-2V5c0-1.1-.9-2-2-2zM9 17H7v-7h2v7zm4 0h-2V7h2v10zm4 0h-2v-4h2v4z\"/\u003e\n", + " \u003c/g\u003e\n", + "\u003c/svg\u003e\n", + " \u003c/button\u003e\n", + "\n", + "\u003cstyle\u003e\n", + " .colab-df-quickchart {\n", + " --bg-color: #E8F0FE;\n", + " --fill-color: #1967D2;\n", + " --hover-bg-color: #E2EBFA;\n", + " --hover-fill-color: #174EA6;\n", + " --disabled-fill-color: #AAA;\n", + " --disabled-bg-color: #DDD;\n", + " }\n", + "\n", + " [theme=dark] .colab-df-quickchart {\n", + " --bg-color: #3B4455;\n", + " --fill-color: #D2E3FC;\n", + " --hover-bg-color: #434B5C;\n", + " --hover-fill-color: #FFFFFF;\n", + " --disabled-bg-color: #3B4455;\n", + " --disabled-fill-color: #666;\n", + " }\n", + "\n", + " .colab-df-quickchart {\n", + " background-color: var(--bg-color);\n", + " border: none;\n", + " border-radius: 50%;\n", + " cursor: pointer;\n", + " display: none;\n", + " fill: var(--fill-color);\n", + " height: 32px;\n", + " padding: 0;\n", + " width: 32px;\n", + " }\n", + "\n", + " .colab-df-quickchart:hover {\n", + " background-color: var(--hover-bg-color);\n", + " box-shadow: 0 1px 2px rgba(60, 64, 67, 0.3), 0 1px 3px 1px rgba(60, 64, 67, 0.15);\n", + " fill: var(--button-hover-fill-color);\n", + " }\n", + "\n", + " .colab-df-quickchart-complete:disabled,\n", + " .colab-df-quickchart-complete:disabled:hover {\n", + " background-color: var(--disabled-bg-color);\n", + " fill: var(--disabled-fill-color);\n", + " box-shadow: none;\n", + " }\n", + "\n", + " .colab-df-spinner {\n", + " border: 2px solid var(--fill-color);\n", + " border-color: transparent;\n", + " border-bottom-color: var(--fill-color);\n", + " animation:\n", + " spin 1s steps(1) infinite;\n", + " }\n", + "\n", + " @keyframes spin {\n", + " 0% {\n", + " border-color: transparent;\n", + " border-bottom-color: var(--fill-color);\n", + " border-left-color: var(--fill-color);\n", + " }\n", + " 20% {\n", + " border-color: transparent;\n", + " border-left-color: var(--fill-color);\n", + " border-top-color: var(--fill-color);\n", + " }\n", + " 30% {\n", + " border-color: transparent;\n", + " border-left-color: var(--fill-color);\n", + " border-top-color: var(--fill-color);\n", + " border-right-color: var(--fill-color);\n", + " }\n", + " 40% {\n", + " border-color: transparent;\n", + " border-right-color: var(--fill-color);\n", + " border-top-color: var(--fill-color);\n", + " }\n", + " 60% {\n", + " border-color: transparent;\n", + " border-right-color: var(--fill-color);\n", + " }\n", + " 80% {\n", + " border-color: transparent;\n", + " border-right-color: var(--fill-color);\n", + " border-bottom-color: var(--fill-color);\n", + " }\n", + " 90% {\n", + " border-color: transparent;\n", + " border-bottom-color: var(--fill-color);\n", + " }\n", + " }\n", + "\u003c/style\u003e\n", + "\n", + " \u003cscript\u003e\n", + " async function quickchart(key) {\n", + " const quickchartButtonEl =\n", + " document.querySelector('#' + key + ' button');\n", + " quickchartButtonEl.disabled = true; // To prevent multiple clicks.\n", + " quickchartButtonEl.classList.add('colab-df-spinner');\n", + " try {\n", + " const charts = await google.colab.kernel.invokeFunction(\n", + " 'suggestCharts', [key], {});\n", + " } catch (error) {\n", + " console.error('Error during call to suggestCharts:', error);\n", + " }\n", + " quickchartButtonEl.classList.remove('colab-df-spinner');\n", + " quickchartButtonEl.classList.add('colab-df-quickchart-complete');\n", + " }\n", + " (() =\u003e {\n", + " let quickchartButtonEl =\n", + " document.querySelector('#df-63afa612-55f4-422d-bd4d-87c93e448a44 button');\n", + " quickchartButtonEl.style.display =\n", + " google.colab.kernel.accessAllowed ? 'block' : 'none';\n", + " })();\n", + " \u003c/script\u003e\n", + " \u003c/div\u003e\n", + " \u003c/div\u003e\n", + " \u003c/div\u003e\n" + ], + "text/plain": [ + " variant_id scored_interval ... raw_score quantile_score\n", + "0 chr3:58394738:A\u003eT chr3:57870450-58919026:. ... -0.003778 -0.215740\n", + "1 chr3:58394738:A\u003eT chr3:57870450-58919026:. ... 0.012303 0.280661\n", + "2 chr3:58394738:A\u003eT chr3:57870450-58919026:. ... -0.000334 -0.080577\n", + "3 chr3:58394738:A\u003eT chr3:57870450-58919026:. ... -0.009233 -0.440600\n", + "4 chr3:58394738:A\u003eT chr3:57870450-58919026:. ... -0.010510 -0.440600\n", + "... ... ... ... ... ...\n", + "121951 chr16:1135446:G\u003eT chr16:611158-1659734:. ... 0.000052 0.069106\n", + "121952 chr16:1135446:G\u003eT chr16:611158-1659734:. ... 0.004865 0.963724\n", + "121953 chr16:1135446:G\u003eT chr16:611158-1659734:. ... -0.000141 -0.137554\n", + "121954 chr16:1135446:G\u003eT chr16:611158-1659734:. ... 0.000508 0.363304\n", + "121955 chr16:1135446:G\u003eT chr16:611158-1659734:. ... -0.001741 -0.737944\n", + "\n", + "[121956 rows x 21 columns]" + ] + }, + "execution_count": 3, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "# @title Score batch of variants.\n", + "\n", + "# Load VCF file containing variants.\n", + "vcf_file = 'placeholder' # @param\n", + "\n", + "# We provide an example list of variants to illustrate.\n", + "vcf_file = \"\"\"variant_id\\tCHROM\\tPOS\\tREF\\tALT\n", + "chr3_58394738_A_T_b38\\tchr3\\t58394738\\tA\\tT\n", + "chr8_28520_G_C_b38\\tchr8\\t28520\\tG\\tC\n", + "chr16_636337_G_A_b38\\tchr16\\t636337\\tG\\tA\n", + "chr16_1135446_G_T_b38\\tchr16\\t1135446\\tG\\tT\n", + "\"\"\"\n", + "\n", + "vcf = pd.read_csv(StringIO(vcf_file), sep='\\t')\n", + "\n", + "required_columns = ['variant_id', 'CHROM', 'POS', 'REF', 'ALT']\n", + "for column in required_columns:\n", + " if column not in vcf.columns:\n", + " raise ValueError(f'VCF file is missing required column: {column}.')\n", + "\n", + "organism = 'human' # @param [\"human\", \"mouse\"] {type:\"string\"}\n", + "\n", + "# @markdown Specify length of sequence around variants to predict:\n", + "sequence_length = '1MB' # @param [\"2KB\", \"16KB\", \"100KB\", \"500KB\", \"1MB\"] { type:\"string\" }\n", + "sequence_length = dna_client.SUPPORTED_SEQUENCE_LENGTHS[\n", + " f'SEQUENCE_LENGTH_{sequence_length}'\n", + "]\n", + "\n", + "# @markdown Specify which scorers to use to score your variants:\n", + "score_rna_seq = True # @param { type: \"boolean\"}\n", + "score_cage = True # @param { type: \"boolean\" }\n", + "score_procap = True # @param { type: \"boolean\" }\n", + "score_atac = True # @param { type: \"boolean\" }\n", + "score_dnase = True # @param { type: \"boolean\" }\n", + "score_chip_histone = True # @param { type: \"boolean\" }\n", + "score_chip_tf = True # @param { type: \"boolean\" }\n", + "score_polyadenylation = True # @param { type: \"boolean\" }\n", + "score_splice_sites = True # @param { type: \"boolean\" }\n", + "score_splice_site_usage = True # @param { type: \"boolean\" }\n", + "score_splice_junctions = True # @param { type: \"boolean\" }\n", + "\n", + "# @markdown Other settings:\n", + "download_predictions = False # @param { type: \"boolean\" }\n", + "\n", + "# Parse organism specification.\n", + "organism_map = {\n", + " 'human': dna_client.Organism.HOMO_SAPIENS,\n", + " 'mouse': dna_client.Organism.MUS_MUSCULUS,\n", + "}\n", + "organism = organism_map[organism]\n", + "\n", + "# Parse scorer specification.\n", + "scorer_selections = {\n", + " 'rna_seq': score_rna_seq,\n", + " 'cage': score_cage,\n", + " 'procap': score_procap,\n", + " 'atac': score_atac,\n", + " 'dnase': score_dnase,\n", + " 'chip_histone': score_chip_histone,\n", + " 'chip_tf': score_chip_tf,\n", + " 'polyadenylation': score_polyadenylation,\n", + " 'splice_sites': score_splice_sites,\n", + " 'splice_site_usage': score_splice_site_usage,\n", + " 'splice_junctions': score_splice_junctions,\n", + "}\n", + "\n", + "all_scorers = variant_scorers.RECOMMENDED_VARIANT_SCORERS\n", + "selected_scorers = [\n", + " all_scorers[key]\n", + " for key in all_scorers\n", + " if scorer_selections.get(key.lower(), False)\n", + "]\n", + "\n", + "# Remove any scorers or output types that are not supported for the chosen organism.\n", + "unsupported_scorers = [\n", + " scorer\n", + " for scorer in selected_scorers\n", + " if (\n", + " organism.value\n", + " not in variant_scorers.SUPPORTED_ORGANISMS[scorer.base_variant_scorer]\n", + " )\n", + " | (\n", + " (scorer.requested_output == dna_client.OutputType.PROCAP)\n", + " \u0026 (organism == dna_client.Organism.MUS_MUSCULUS)\n", + " )\n", + "]\n", + "if len(unsupported_scorers) \u003e 0:\n", + " print(\n", + " f'Excluding {unsupported_scorers} scorers as they are not supported for'\n", + " f' {organism}.'\n", + " )\n", + " for unsupported_scorer in unsupported_scorers:\n", + " selected_scorers.remove(unsupported_scorer)\n", + "\n", + "\n", + "# Score variants in the VCF file.\n", + "results = []\n", + "\n", + "for i, vcf_row in tqdm(vcf.iterrows(), total=len(vcf)):\n", + " variant = genome.Variant(\n", + " chromosome=str(vcf_row.CHROM),\n", + " position=int(vcf_row.POS),\n", + " reference_bases=vcf_row.REF,\n", + " alternate_bases=vcf_row.ALT,\n", + " name=vcf_row.variant_id,\n", + " )\n", + " interval = variant.reference_interval.resize(sequence_length)\n", + "\n", + " variant_scores = dna_model.score_variant(\n", + " interval=interval,\n", + " variant=variant,\n", + " variant_scorers=selected_scorers,\n", + " organism=organism,\n", + " )\n", + " results.append(variant_scores)\n", + "\n", + "df_scores = variant_scorers.tidy_scores(results)\n", + "\n", + "if download_predictions:\n", + " df_scores.to_csv('variant_scores.csv', index=False)\n", + " files.download('variant_scores.csv')\n", + "\n", + "df_scores" + ] + }, + { + "cell_type": "markdown", + "metadata": { + "id": "H_B5J8HDrA-h" + }, + "source": [ + "Note that the resulting output dataframe could be quite large, especially if you\n", + "use many scorers for scoring. Very large dataframes can't be filtered\n", + "interactively, but you can interact with them using the standard `pandas`\n", + "commands:" + ] + }, + { + "cell_type": "code", + "execution_count": 4, + "metadata": { + "colab": { + "height": 1574 + }, + "executionInfo": { + "elapsed": 474, + "status": "ok", + "timestamp": 1753113312546, + "user": { + "displayName": "", + "userId": "" + }, + "user_tz": -60 + }, + "id": "69iH8Chkr5XD", + "outputId": "9287ddeb-ee32-4ff9-e35b-27a7b2b4fe31" + }, + "outputs": [ + { + "data": { + "application/vnd.google.colaboratory.intrinsic+json": { + "repr_error": "Out of range float values are not JSON compliant: nan", + "type": "dataframe" + }, + "application/vnd.google.colaboratory.module+javascript": "\n import \"https://ssl.gstatic.com/colaboratory/data_table/9e65f7085e7ffcb7/data_table.js\";\n\n const table = window.createDataTable({\n data: [[{\n 'v': 0,\n 'f': \"0\",\n 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\u003ctd\u003e...\u003c/td\u003e\n", + " \u003ctd\u003e...\u003c/td\u003e\n", + " \u003ctd\u003e...\u003c/td\u003e\n", + " \u003ctd\u003e...\u003c/td\u003e\n", + " \u003ctd\u003e...\u003c/td\u003e\n", + " \u003ctd\u003e...\u003c/td\u003e\n", + " \u003c/tr\u003e\n", + " \u003ctr\u003e\n", + " \u003cth\u003e95033\u003c/th\u003e\n", + " \u003ctd\u003echr16:1135446:G\u0026gt;T\u003c/td\u003e\n", + " \u003ctd\u003echr16:611158-1659734:.\u003c/td\u003e\n", + " \u003ctd\u003eENSG00000290756\u003c/td\u003e\n", + " \u003ctd\u003eENSG00000290756\u003c/td\u003e\n", + " \u003ctd\u003elncRNA\u003c/td\u003e\n", + " \u003ctd\u003e-\u003c/td\u003e\n", + " \u003ctd\u003eNone\u003c/td\u003e\n", + " \u003ctd\u003eNone\u003c/td\u003e\n", + " \u003ctd\u003eRNA_SEQ\u003c/td\u003e\n", + " \u003ctd\u003eGeneMaskLFCScorer(requested_output=RNA_SEQ)\u003c/td\u003e\n", + " \u003ctd\u003eCL:0000084 total RNA-seq\u003c/td\u003e\n", + " \u003ctd\u003e-\u003c/td\u003e\n", + " \u003ctd\u003etotal RNA-seq\u003c/td\u003e\n", + " \u003ctd\u003eT-cell\u003c/td\u003e\n", + " \u003ctd\u003eprimary_cell\u003c/td\u003e\n", + " \u003ctd\u003eNaN\u003c/td\u003e\n", + " \u003ctd\u003eNaN\u003c/td\u003e\n", + " \u003ctd\u003e\u003c/td\u003e\n", + " \u003ctd\u003e-0.000237\u003c/td\u003e\n", + " \u003ctd\u003e-0.312224\u003c/td\u003e\n", + " \u003c/tr\u003e\n", + " \u003ctr\u003e\n", + " \u003cth\u003e95034\u003c/th\u003e\n", + " \u003ctd\u003echr16:1135446:G\u0026gt;T\u003c/td\u003e\n", + " \u003ctd\u003echr16:611158-1659734:.\u003c/td\u003e\n", + " \u003ctd\u003eENSG00000292400\u003c/td\u003e\n", + " \u003ctd\u003eENSG00000292400\u003c/td\u003e\n", + " \u003ctd\u003elncRNA\u003c/td\u003e\n", + " \u003ctd\u003e-\u003c/td\u003e\n", + " \u003ctd\u003eNone\u003c/td\u003e\n", + " \u003ctd\u003eNone\u003c/td\u003e\n", + " \u003ctd\u003eRNA_SEQ\u003c/td\u003e\n", + " \u003ctd\u003eGeneMaskLFCScorer(requested_output=RNA_SEQ)\u003c/td\u003e\n", + " \u003ctd\u003eCL:0000084 total RNA-seq\u003c/td\u003e\n", + " \u003ctd\u003e-\u003c/td\u003e\n", + " \u003ctd\u003etotal RNA-seq\u003c/td\u003e\n", + " \u003ctd\u003eT-cell\u003c/td\u003e\n", + " \u003ctd\u003eprimary_cell\u003c/td\u003e\n", + " \u003ctd\u003eNaN\u003c/td\u003e\n", + " \u003ctd\u003eNaN\u003c/td\u003e\n", + " \u003ctd\u003e\u003c/td\u003e\n", + " \u003ctd\u003e0.000030\u003c/td\u003e\n", + " \u003ctd\u003e0.126219\u003c/td\u003e\n", + " \u003c/tr\u003e\n", + " \u003ctr\u003e\n", + " \u003cth\u003e95035\u003c/th\u003e\n", + " \u003ctd\u003echr16:1135446:G\u0026gt;T\u003c/td\u003e\n", + " \u003ctd\u003echr16:611158-1659734:.\u003c/td\u003e\n", + " \u003ctd\u003eENSG00000292423\u003c/td\u003e\n", + " \u003ctd\u003eENSG00000292423\u003c/td\u003e\n", + " \u003ctd\u003elncRNA\u003c/td\u003e\n", + " \u003ctd\u003e-\u003c/td\u003e\n", + " \u003ctd\u003eNone\u003c/td\u003e\n", + " \u003ctd\u003eNone\u003c/td\u003e\n", + " \u003ctd\u003eRNA_SEQ\u003c/td\u003e\n", + " \u003ctd\u003eGeneMaskLFCScorer(requested_output=RNA_SEQ)\u003c/td\u003e\n", + " \u003ctd\u003eCL:0000084 total RNA-seq\u003c/td\u003e\n", + " \u003ctd\u003e-\u003c/td\u003e\n", + " \u003ctd\u003etotal RNA-seq\u003c/td\u003e\n", + " \u003ctd\u003eT-cell\u003c/td\u003e\n", + " \u003ctd\u003eprimary_cell\u003c/td\u003e\n", + " \u003ctd\u003eNaN\u003c/td\u003e\n", + " \u003ctd\u003eNaN\u003c/td\u003e\n", + " \u003ctd\u003e\u003c/td\u003e\n", + " \u003ctd\u003e0.000173\u003c/td\u003e\n", + " \u003ctd\u003e0.280661\u003c/td\u003e\n", + " \u003c/tr\u003e\n", + " \u003ctr\u003e\n", + " \u003cth\u003e95036\u003c/th\u003e\n", + " \u003ctd\u003echr16:1135446:G\u0026gt;T\u003c/td\u003e\n", + " \u003ctd\u003echr16:611158-1659734:.\u003c/td\u003e\n", + " \u003ctd\u003eENSG00000292431\u003c/td\u003e\n", + " \u003ctd\u003eENSG00000292431\u003c/td\u003e\n", + " \u003ctd\u003elncRNA\u003c/td\u003e\n", + " \u003ctd\u003e-\u003c/td\u003e\n", + " \u003ctd\u003eNone\u003c/td\u003e\n", + " \u003ctd\u003eNone\u003c/td\u003e\n", + " \u003ctd\u003eRNA_SEQ\u003c/td\u003e\n", + " \u003ctd\u003eGeneMaskLFCScorer(requested_output=RNA_SEQ)\u003c/td\u003e\n", + " \u003ctd\u003eCL:0000084 total RNA-seq\u003c/td\u003e\n", + " \u003ctd\u003e-\u003c/td\u003e\n", + " \u003ctd\u003etotal RNA-seq\u003c/td\u003e\n", + " \u003ctd\u003eT-cell\u003c/td\u003e\n", + " \u003ctd\u003eprimary_cell\u003c/td\u003e\n", + " \u003ctd\u003eNaN\u003c/td\u003e\n", + " \u003ctd\u003eNaN\u003c/td\u003e\n", + " \u003ctd\u003e\u003c/td\u003e\n", + " \u003ctd\u003e-0.000035\u003c/td\u003e\n", + " \u003ctd\u003e-0.126219\u003c/td\u003e\n", + " \u003c/tr\u003e\n", + " \u003ctr\u003e\n", + " \u003cth\u003e95037\u003c/th\u003e\n", + " \u003ctd\u003echr16:1135446:G\u0026gt;T\u003c/td\u003e\n", + " \u003ctd\u003echr16:611158-1659734:.\u003c/td\u003e\n", + " \u003ctd\u003eENSG00000292432\u003c/td\u003e\n", + " \u003ctd\u003eENSG00000292432\u003c/td\u003e\n", + " \u003ctd\u003elncRNA\u003c/td\u003e\n", + " \u003ctd\u003e-\u003c/td\u003e\n", + " \u003ctd\u003eNone\u003c/td\u003e\n", + " \u003ctd\u003eNone\u003c/td\u003e\n", + " \u003ctd\u003eRNA_SEQ\u003c/td\u003e\n", + " \u003ctd\u003eGeneMaskLFCScorer(requested_output=RNA_SEQ)\u003c/td\u003e\n", + " \u003ctd\u003eCL:0000084 total RNA-seq\u003c/td\u003e\n", + " \u003ctd\u003e-\u003c/td\u003e\n", + " \u003ctd\u003etotal RNA-seq\u003c/td\u003e\n", + " \u003ctd\u003eT-cell\u003c/td\u003e\n", + " \u003ctd\u003eprimary_cell\u003c/td\u003e\n", + " \u003ctd\u003eNaN\u003c/td\u003e\n", + " \u003ctd\u003eNaN\u003c/td\u003e\n", + " \u003ctd\u003e\u003c/td\u003e\n", + " \u003ctd\u003e0.000978\u003c/td\u003e\n", + " \u003ctd\u003e0.635053\u003c/td\u003e\n", + " \u003c/tr\u003e\n", + " \u003c/tbody\u003e\n", + "\u003c/table\u003e\n", + "\u003cp\u003e524 rows × 20 columns\u003c/p\u003e\n", + "\u003c/div\u003e\n", + " \u003cdiv class=\"colab-df-buttons\"\u003e\n", + "\n", + " \u003cdiv class=\"colab-df-container\"\u003e\n", + " \u003cbutton class=\"colab-df-convert\" onclick=\"convertToInteractive('df-bfc0f1ff-31a2-4cd5-9bc7-61a30f76d72e')\"\n", + " title=\"Convert this dataframe to an interactive table.\"\n", + " style=\"display:none;\"\u003e\n", + "\n", + " \u003csvg xmlns=\"http://www.w3.org/2000/svg\" height=\"24px\" viewBox=\"0 -960 960 960\"\u003e\n", + " \u003cpath d=\"M120-120v-720h720v720H120Zm60-500h600v-160H180v160Zm220 220h160v-160H400v160Zm0 220h160v-160H400v160ZM180-400h160v-160H180v160Zm440 0h160v-160H620v160ZM180-180h160v-160H180v160Zm440 0h160v-160H620v160Z\"/\u003e\n", + " \u003c/svg\u003e\n", + " \u003c/button\u003e\n", + "\n", + " \u003cstyle\u003e\n", + " .colab-df-container {\n", + " display:flex;\n", + " gap: 12px;\n", + " }\n", + "\n", + " .colab-df-convert {\n", + " background-color: #E8F0FE;\n", + " border: none;\n", + " border-radius: 50%;\n", + " cursor: pointer;\n", + " display: none;\n", + " fill: #1967D2;\n", + " height: 32px;\n", + " padding: 0 0 0 0;\n", + " width: 32px;\n", + " }\n", + "\n", + " .colab-df-convert:hover {\n", + " background-color: #E2EBFA;\n", + " box-shadow: 0px 1px 2px rgba(60, 64, 67, 0.3), 0px 1px 3px 1px rgba(60, 64, 67, 0.15);\n", + " fill: #174EA6;\n", + " }\n", + "\n", + " .colab-df-buttons div {\n", + " margin-bottom: 4px;\n", + " }\n", + "\n", + " [theme=dark] .colab-df-convert {\n", + " background-color: #3B4455;\n", + " fill: #D2E3FC;\n", + " }\n", + "\n", + " [theme=dark] .colab-df-convert:hover {\n", + " background-color: #434B5C;\n", + " box-shadow: 0px 1px 3px 1px rgba(0, 0, 0, 0.15);\n", + " filter: drop-shadow(0px 1px 2px rgba(0, 0, 0, 0.3));\n", + " fill: #FFFFFF;\n", + " }\n", + " \u003c/style\u003e\n", + "\n", + " \u003cscript\u003e\n", + " const buttonEl =\n", + " document.querySelector('#df-bfc0f1ff-31a2-4cd5-9bc7-61a30f76d72e button.colab-df-convert');\n", + " buttonEl.style.display =\n", + " google.colab.kernel.accessAllowed ? 'block' : 'none';\n", + "\n", + " async function convertToInteractive(key) {\n", + " const element = document.querySelector('#df-bfc0f1ff-31a2-4cd5-9bc7-61a30f76d72e');\n", + " const dataTable =\n", + " await google.colab.kernel.invokeFunction('convertToInteractive',\n", + " [key], {});\n", + " if (!dataTable) return;\n", + "\n", + " const docLinkHtml = 'Like what you see? Visit the ' +\n", + " '\u003ca target=\"_blank\" href=https://colab.research.google.com/notebooks/data_table.ipynb\u003edata table notebook\u003c/a\u003e'\n", + " + ' to learn more about interactive tables.';\n", + " element.innerHTML = '';\n", + " dataTable['output_type'] = 'display_data';\n", + " await google.colab.output.renderOutput(dataTable, element);\n", + " const docLink = document.createElement('div');\n", + " docLink.innerHTML = docLinkHtml;\n", + " element.appendChild(docLink);\n", + " }\n", + " \u003c/script\u003e\n", + " \u003c/div\u003e\n", + "\n", + "\n", + " \u003cdiv id=\"df-044efd3c-dcfe-404a-afa2-5b4a6503aca2\"\u003e\n", + " \u003cbutton class=\"colab-df-quickchart\" onclick=\"quickchart('df-044efd3c-dcfe-404a-afa2-5b4a6503aca2')\"\n", + " title=\"Suggest charts\"\n", + " style=\"display:none;\"\u003e\n", + "\n", + "\u003csvg xmlns=\"http://www.w3.org/2000/svg\" height=\"24px\"viewBox=\"0 0 24 24\"\n", + " width=\"24px\"\u003e\n", + " \u003cg\u003e\n", + " \u003cpath d=\"M19 3H5c-1.1 0-2 .9-2 2v14c0 1.1.9 2 2 2h14c1.1 0 2-.9 2-2V5c0-1.1-.9-2-2-2zM9 17H7v-7h2v7zm4 0h-2V7h2v10zm4 0h-2v-4h2v4z\"/\u003e\n", + " \u003c/g\u003e\n", + "\u003c/svg\u003e\n", + " \u003c/button\u003e\n", + "\n", + "\u003cstyle\u003e\n", + " .colab-df-quickchart {\n", + " --bg-color: #E8F0FE;\n", + " --fill-color: #1967D2;\n", + " --hover-bg-color: #E2EBFA;\n", + " --hover-fill-color: #174EA6;\n", + " --disabled-fill-color: #AAA;\n", + " --disabled-bg-color: #DDD;\n", + " }\n", + "\n", + " [theme=dark] .colab-df-quickchart {\n", + " --bg-color: #3B4455;\n", + " --fill-color: #D2E3FC;\n", + " --hover-bg-color: #434B5C;\n", + " --hover-fill-color: #FFFFFF;\n", + " --disabled-bg-color: #3B4455;\n", + " --disabled-fill-color: #666;\n", + " }\n", + "\n", + " .colab-df-quickchart {\n", + " background-color: var(--bg-color);\n", + " border: none;\n", + " border-radius: 50%;\n", + " cursor: pointer;\n", + " display: none;\n", + " fill: var(--fill-color);\n", + " height: 32px;\n", + " padding: 0;\n", + " width: 32px;\n", + " }\n", + "\n", + " .colab-df-quickchart:hover {\n", + " background-color: var(--hover-bg-color);\n", + " box-shadow: 0 1px 2px rgba(60, 64, 67, 0.3), 0 1px 3px 1px rgba(60, 64, 67, 0.15);\n", + " fill: var(--button-hover-fill-color);\n", + " }\n", + "\n", + " .colab-df-quickchart-complete:disabled,\n", + " .colab-df-quickchart-complete:disabled:hover {\n", + " background-color: var(--disabled-bg-color);\n", + " fill: var(--disabled-fill-color);\n", + " box-shadow: none;\n", + " }\n", + "\n", + " .colab-df-spinner {\n", + " border: 2px solid var(--fill-color);\n", + " border-color: transparent;\n", + " border-bottom-color: var(--fill-color);\n", + " animation:\n", + " spin 1s steps(1) infinite;\n", + " }\n", + "\n", + " @keyframes spin {\n", + " 0% {\n", + " border-color: transparent;\n", + " border-bottom-color: var(--fill-color);\n", + " border-left-color: var(--fill-color);\n", + " }\n", + " 20% {\n", + " border-color: transparent;\n", + " border-left-color: var(--fill-color);\n", + " border-top-color: var(--fill-color);\n", + " }\n", + " 30% {\n", + " border-color: transparent;\n", + " border-left-color: var(--fill-color);\n", + " border-top-color: var(--fill-color);\n", + " border-right-color: var(--fill-color);\n", + " }\n", + " 40% {\n", + " border-color: transparent;\n", + " border-right-color: var(--fill-color);\n", + " border-top-color: var(--fill-color);\n", + " }\n", + " 60% {\n", + " border-color: transparent;\n", + " border-right-color: var(--fill-color);\n", + " }\n", + " 80% {\n", + " border-color: transparent;\n", + " border-right-color: var(--fill-color);\n", + " border-bottom-color: var(--fill-color);\n", + " }\n", + " 90% {\n", + " border-color: transparent;\n", + " border-bottom-color: var(--fill-color);\n", + " }\n", + " }\n", + "\u003c/style\u003e\n", + "\n", + " \u003cscript\u003e\n", + " async function quickchart(key) {\n", + " const quickchartButtonEl =\n", + " document.querySelector('#' + key + ' button');\n", + " quickchartButtonEl.disabled = true; // To prevent multiple clicks.\n", + " quickchartButtonEl.classList.add('colab-df-spinner');\n", + " try {\n", + " const charts = await google.colab.kernel.invokeFunction(\n", + " 'suggestCharts', [key], {});\n", + " } catch (error) {\n", + " console.error('Error during call to suggestCharts:', error);\n", + " }\n", + " quickchartButtonEl.classList.remove('colab-df-spinner');\n", + " quickchartButtonEl.classList.add('colab-df-quickchart-complete');\n", + " }\n", + " (() =\u003e {\n", + " let quickchartButtonEl =\n", + " document.querySelector('#df-044efd3c-dcfe-404a-afa2-5b4a6503aca2 button');\n", + " quickchartButtonEl.style.display =\n", + " google.colab.kernel.accessAllowed ? 'block' : 'none';\n", + " })();\n", + " \u003c/script\u003e\n", + " \u003c/div\u003e\n", + " \u003c/div\u003e\n", + " \u003c/div\u003e\n" + ], + "text/plain": [ + " variant_id scored_interval ... raw_score quantile_score\n", + "0 chr3:58394738:A\u003eT chr3:57870450-58919026:. ... -0.003778 -0.215740\n", + "168 chr3:58394738:A\u003eT chr3:57870450-58919026:. ... -0.030633 -0.680793\n", + "2109 chr3:58394738:A\u003eT chr3:57870450-58919026:. ... -0.001469 -0.373276\n", + "2110 chr3:58394738:A\u003eT chr3:57870450-58919026:. ... 0.001324 0.171333\n", + "2111 chr3:58394738:A\u003eT chr3:57870450-58919026:. ... -0.002098 -0.383161\n", + "... ... ... ... ... ...\n", + "95033 chr16:1135446:G\u003eT chr16:611158-1659734:. ... -0.000237 -0.312224\n", + "95034 chr16:1135446:G\u003eT chr16:611158-1659734:. ... 0.000030 0.126219\n", + "95035 chr16:1135446:G\u003eT chr16:611158-1659734:. ... 0.000173 0.280661\n", + "95036 chr16:1135446:G\u003eT chr16:611158-1659734:. ... -0.000035 -0.126219\n", + "95037 chr16:1135446:G\u003eT chr16:611158-1659734:. ... 0.000978 0.635053\n", + "\n", + "[524 rows x 20 columns]" + ] + }, + "execution_count": 4, + "metadata": {}, + "output_type": "execute_result" + } + ], + "source": [ + "# Examine just the effects of the variants on T-cells.\n", + "columns = [c for c in df_scores.columns if c != 'ontology_curie']\n", + "df_scores[(df_scores['ontology_curie'] == 'CL:0000084')][columns]" + ] + } + ], + "metadata": { + "colab": { + "last_runtime": {}, + "name": "batch_variant_scoring.ipynb", + "provenance": [ + { + "file_id": "1RzAW0xmRFe7UkS0HKCOFFV6tVkc_elUh", + "timestamp": 1729614262382 + }, + { + "file_id": "", + "timestamp": 1729177232324 + }, + { + "file_id": "1UcU771Brz691HgrtQBrA41Qrq55_GgJS", + "timestamp": 1728927969951 + } + ], + "toc_visible": true + }, + "kernelspec": { + "display_name": "Python 3", + "name": "python3" + }, + "language_info": { + "name": "python" + } + }, + "nbformat": 4, + "nbformat_minor": 0 +}