Exemple #1
0
def _retrieve_saved_variants_json(project, variant_tuples):
    xpos_ref_alt_tuples = []
    xpos_ref_alt_family_tuples = []
    family_id_to_guid = {}
    for xpos, ref, alt, family in variant_tuples:
        xpos_ref_alt_tuples.append((xpos, ref, alt))
        xpos_ref_alt_family_tuples.append((xpos, ref, alt, family.family_id))
        family_id_to_guid[family.family_id] = family.guid

    families = project.family_set.filter(guid__in=family_id_to_guid.values())
    return get_es_variants_for_variant_tuples(families, xpos_ref_alt_tuples)
Exemple #2
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def _retrieve_saved_variants_json(project, variant_tuples, create_if_missing=False):
    xpos_ref_alt_tuples = []
    xpos_ref_alt_family_tuples = []
    family_id_to_guid = {}
    for xpos, ref, alt, family in variant_tuples:
        xpos_ref_alt_tuples.append((xpos, ref, alt))
        xpos_ref_alt_family_tuples.append((xpos, ref, alt, family.family_id))
        family_id_to_guid[family.family_id] = family.guid

    try:
        families = project.family_set.filter(guid__in=family_id_to_guid.values())
        return get_es_variants_for_variant_tuples(families, xpos_ref_alt_tuples)
    except InvalidIndexException:
        return deprecated_retrieve_saved_variants_json(project, xpos_ref_alt_family_tuples, create_if_missing)
Exemple #3
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def _retrieve_saved_variants_json(project, variant_tuples, create_if_missing=False):
    xpos_ref_alt_tuples = []
    xpos_ref_alt_family_tuples = []
    family_id_to_guid = {}
    for xpos, ref, alt, family in variant_tuples:
        xpos_ref_alt_tuples.append((xpos, ref, alt))
        xpos_ref_alt_family_tuples.append((xpos, ref, alt, family.family_id))
        family_id_to_guid[family.family_id] = family.guid

    try:
        families = project.family_set.filter(guid__in=family_id_to_guid.values())
        return get_es_variants_for_variant_tuples(families, xpos_ref_alt_tuples)
    except InvalidIndexException:
        variants = _deprecated_retrieve_saved_variants_json(project, xpos_ref_alt_family_tuples, create_if_missing)
        for var in variants:
            var['familyGuids'] = [family_id_to_guid[var['extras']['family_id']]]
        return variants
Exemple #4
0
    def handle(self, *args, **options):
        """transfer project"""
        project_arg = options['project']
        elasticsearch_index = options['es_index']

        project = Project.objects.get(
            Q(name=project_arg) | Q(guid=project_arg))
        logger.info('Updating project genome version for {}'.format(
            project.name))

        # Validate the provided index
        logger.info('Validating es index {}'.format(elasticsearch_index))
        sample_ids, index_metadata = get_elasticsearch_index_samples(
            elasticsearch_index)
        validate_index_metadata(index_metadata,
                                project,
                                elasticsearch_index,
                                genome_version=GENOME_VERSION_GRCh38)
        sample_type = index_metadata['sampleType']
        dataset_path = index_metadata['sourceFilePath']

        matched_sample_id_to_sample_record = match_sample_ids_to_sample_records(
            project=project,
            sample_ids=sample_ids,
            sample_type=sample_type,
            dataset_type=Sample.DATASET_TYPE_VARIANT_CALLS,
            elasticsearch_index=elasticsearch_index,
            sample_id_to_individual_id_mapping={},
        )

        unmatched_samples = set(sample_ids) - set(
            matched_sample_id_to_sample_record.keys())
        if len(unmatched_samples) > 0:
            raise CommandError(
                'Matches not found for ES sample ids: {}.'.format(
                    ', '.join(unmatched_samples)))

        prefetch_related_objects(matched_sample_id_to_sample_record.values(),
                                 'individual__family')
        included_families = {
            sample.individual.family
            for sample in matched_sample_id_to_sample_record.values()
        }
        missing_individuals = Individual.objects.filter(
            family__in=included_families,
            sample__is_active=True,
            sample__dataset_type=Sample.DATASET_TYPE_VARIANT_CALLS,
        ).exclude(sample__in=matched_sample_id_to_sample_record.values()
                  ).select_related('family')
        missing_family_individuals = defaultdict(list)
        for individual in missing_individuals:
            missing_family_individuals[individual.family].append(individual)

        if missing_family_individuals:
            raise CommandError(
                'The following families are included in the callset but are missing some family members: {}.'
                .format(', '.join([
                    '{} ({})'.format(
                        family.family_id,
                        ', '.join([i.individual_id for i in missing_indivs]))
                    for family, missing_indivs in
                    missing_family_individuals.items()
                ])))

        # Get and clean up expected saved variants
        saved_variant_models_by_guid = {
            v.guid: v
            for v in SavedVariant.objects.filter(family__project=project)
        }
        deleted_no_tags = set()
        for guid, variant in saved_variant_models_by_guid.items():
            if not (variant.varianttag_set.count()
                    or variant.variantnote_set.count()):
                deleted_no_tags.add(guid)

        if deleted_no_tags:
            if raw_input(
                    'Do you want to delete the following {} saved variants with no tags (y/n)?: {} '
                    .format(len(deleted_no_tags),
                            ', '.join(deleted_no_tags))) == 'y':
                for guid in deleted_no_tags:
                    saved_variant_models_by_guid.pop(guid).delete()
                logger.info('Deleted {} variants'.format(len(deleted_no_tags)))

        expected_families = {
            sv.family
            for sv in saved_variant_models_by_guid.values()
        }
        missing_families = expected_families - included_families
        if missing_families:
            raise CommandError(
                'The following families have saved variants but are missing from the callset: {}.'
                .format(', '.join([f.family_id for f in missing_families])))

        # Lift-over saved variants
        _update_variant_samples(matched_sample_id_to_sample_record,
                                elasticsearch_index, dataset_path)
        saved_variants = get_json_for_saved_variants(
            saved_variant_models_by_guid.values(), add_details=True)
        saved_variants_to_lift = [
            v for v in saved_variants
            if v['genomeVersion'] != GENOME_VERSION_GRCh38
        ]

        num_already_lifted = len(saved_variants) - len(saved_variants_to_lift)
        if num_already_lifted:
            if raw_input(
                    'Found {} saved variants already on Hg38. Continue with liftover (y/n)? '
                    .format(num_already_lifted)) != 'y':
                raise CommandError(
                    'Error: found {} saved variants already on Hg38'.format(
                        num_already_lifted))
        logger.info(
            'Lifting over {} variants (skipping {} that are already lifted)'.
            format(len(saved_variants_to_lift), num_already_lifted))

        liftover_to_38 = LiftOver('hg19', 'hg38')
        hg37_to_hg38_xpos = {}
        lift_failed = {}
        for v in saved_variants_to_lift:
            if not (hg37_to_hg38_xpos.get(v['xpos'])
                    or v['xpos'] in lift_failed):
                hg38_coord = liftover_to_38.convert_coordinate(
                    'chr{}'.format(v['chrom'].lstrip('chr')), int(v['pos']))
                if hg38_coord and hg38_coord[0]:
                    hg37_to_hg38_xpos[v['xpos']] = get_xpos(
                        hg38_coord[0][0], hg38_coord[0][1])
                else:
                    lift_failed[v['xpos']] = v

        if lift_failed:
            if raw_input(
                    'Unable to lift over the following {} coordinates. Continue with update (y/n)?: {} '
                    .format(
                        len(lift_failed), ', '.join([
                            '{}:{}-{}-{} ({})'.format(
                                v['chrom'], v['pos'], v['ref'], v['alt'],
                                ', '.join(v['familyGuids']))
                            for v in lift_failed.values()
                        ]))) != 'y':
                raise CommandError(
                    'Error: unable to lift over {} variants'.format(
                        len(lift_failed)))

        saved_variants_map = defaultdict(list)
        for v in saved_variants_to_lift:
            if hg37_to_hg38_xpos.get(v['xpos']):
                variant_model = saved_variant_models_by_guid[v['variantGuid']]
                saved_variants_map[(hg37_to_hg38_xpos[v['xpos']], v['ref'],
                                    v['alt'])].append(variant_model)

        es_variants = get_es_variants_for_variant_tuples(
            expected_families, saved_variants_map.keys())

        missing_variants = set(
            saved_variants_map.keys()) - {(v['xpos'], v['ref'], v['alt'])
                                          for v in es_variants}
        if missing_variants:
            missing_variant_strings = []
            for xpos, ref, alt in missing_variants:
                var_id = '{}-{}-{}'.format(xpos, ref, alt)
                for v in saved_variants_map[(xpos, ref, alt)]:
                    tags = v.varianttag_set.all()
                    notes = v.variantnote_set.all()
                    missing_variant_strings.append(
                        '{var_id} {family_id}: {tags} ({guid})'.format(
                            var_id=var_id,
                            family_id=v.family.family_id,
                            guid=v.guid,
                            tags=', '.join([
                                tag.variant_tag_type.name for tag in tags
                            ]) if tags else 'No Tags; {}'.format('; '.join(
                                [note.note for note in notes]))))
            if raw_input(
                    'Unable to find the following {} variants in the index. Continue with update (y/n)?:\n{}\n'
                    .format(len(missing_variants),
                            '\n'.join(missing_variant_strings))) != 'y':
                raise CommandError(
                    'Error: unable to find {} lifted-over variants'.format(
                        len(missing_variants)))

        logger.info('Successfully lifted over {} variants'.format(
            len(es_variants)))

        #  Update saved variants
        missing_family_count = 0
        for var in es_variants:
            saved_variant_models = saved_variants_map[(var['xpos'], var['ref'],
                                                       var['alt'])]
            missing_saved_variants = [
                v for v in saved_variant_models
                if v.family.guid not in var['familyGuids']
            ]
            if missing_saved_variants:
                variant_id = '{}-{}-{}-{}'.format(var['chrom'], var['pos'],
                                                  var['ref'], var['alt'])
                if raw_input(
                    ('Variant {} (hg37: {}) not find for expected families {}. Continue with update (y/n)? '
                     .format(
                         variant_id, missing_saved_variants[0].xpos,
                         ', '.join([
                             '{} ({})'.format(v.family.guid, v.guid)
                             for v in missing_saved_variants
                         ])))) == 'y':
                    var = get_single_es_variant(
                        [v.family for v in saved_variant_models],
                        variant_id,
                        return_all_queried_families=True)
                    missing_family_count += len(missing_saved_variants)
                else:
                    raise CommandError(
                        'Error: unable to find family data for lifted over variant'
                    )
            for saved_variant in saved_variant_models:
                saved_variant.xpos_start = var['xpos']
                saved_variant.saved_variant_json = var
                saved_variant.save()

        logger.info('Successfully updated {} variants'.format(
            len(es_variants)))

        # Update project and sample data
        update_model_from_json(project, {
            'genome_version': GENOME_VERSION_GRCh38,
            'has_new_search': True
        })
        update_xbrowse_vcfffiles(project, sample_type, elasticsearch_index,
                                 dataset_path,
                                 matched_sample_id_to_sample_record)

        reset_cached_search_results(project)

        logger.info('---Done---')
        logger.info(
            'Succesfully lifted over {} variants. Skipped {} failed variants. Family data not updated for {} variants'
            .format(len(es_variants),
                    len(missing_variants) + len(lift_failed),
                    missing_family_count))
    def handle(self, *args, **options):
        """transfer project"""
        project_arg = options['project']
        elasticsearch_index = options['es_index']

        project = Project.objects.get(Q(name=project_arg) | Q(guid=project_arg))
        logger.info('Updating project genome version for {}'.format(project.name))

        # Validate the provided index
        logger.info('Validating es index {}'.format(elasticsearch_index))
        sample_ids, index_metadata = get_elasticsearch_index_samples(elasticsearch_index)
        validate_index_metadata(index_metadata, project, elasticsearch_index, genome_version=GENOME_VERSION_GRCh38)
        sample_type = index_metadata['sampleType']
        dataset_path = index_metadata['sourceFilePath']

        matched_sample_id_to_sample_record = match_sample_ids_to_sample_records(
            project=project,
            sample_ids=sample_ids,
            sample_type=sample_type,
            dataset_type=Sample.DATASET_TYPE_VARIANT_CALLS,
            elasticsearch_index=elasticsearch_index,
            sample_id_to_individual_id_mapping={},
        )

        unmatched_samples = set(sample_ids) - set(matched_sample_id_to_sample_record.keys())
        if len(unmatched_samples) > 0:
            raise Exception('Matches not found for ES sample ids: {}.'.format(', '.join(unmatched_samples)))

        included_family_individuals = defaultdict(set)
        individual_guids_by_id = {}
        for sample in matched_sample_id_to_sample_record.values():
            included_family_individuals[sample.individual.family].add(sample.individual.individual_id)
            individual_guids_by_id[sample.individual.individual_id] = sample.individual.guid
        missing_family_individuals = []
        for family, individual_ids in included_family_individuals.items():
            missing_indivs = family.individual_set.filter(
                sample__sample_status=Sample.SAMPLE_STATUS_LOADED,
                sample__dataset_type=Sample.DATASET_TYPE_VARIANT_CALLS
            ).exclude(individual_id__in=individual_ids)
            if missing_indivs:
                missing_family_individuals.append(
                    '{} ({})'.format(family.family_id, ', '.join([i.individual_id for i in missing_indivs]))
                )
        if missing_family_individuals:
            raise Exception(
                'The following families are included in the callset but are missing some family members: {}.'.format(
                    ', '.join(missing_family_individuals)
                ))

        # Get and clean up expected saved variants
        saved_variant_models_by_guid = {v.guid: v for v in SavedVariant.objects.filter(project=project)}
        deleted_no_family = set()
        deleted_no_tags = set()
        for guid, variant in saved_variant_models_by_guid.items():
            if not variant.family:
                deleted_no_family.add(guid)
            elif not (variant.varianttag_set.count() or variant.variantnote_set.count()):
                deleted_no_tags.add(guid)

        if deleted_no_family:
            if raw_input('Do you want to delete the following {} saved variants with no family (y/n)?: {} '.format(
                    len(deleted_no_family), ', '.join(deleted_no_family))) == 'y':
                for guid in deleted_no_family:
                    saved_variant_models_by_guid.pop(guid).delete()
                logger.info('Deleted {} variants'.format(len(deleted_no_family)))

        if deleted_no_tags:
            if raw_input('Do you want to delete the following {} saved variants with no tags (y/n)?: {} '.format(
                    len(deleted_no_tags), ', '.join(deleted_no_tags))) == 'y':
                for guid in deleted_no_tags:
                    saved_variant_models_by_guid.pop(guid).delete()
                logger.info('Deleted {} variants'.format(len(deleted_no_tags)))

        expected_families = {sv.family for sv in saved_variant_models_by_guid.values()}
        missing_families = expected_families - set(included_family_individuals.keys())
        if missing_families:
            raise Exception(
                'The following families have saved variants but are missing from the callset: {}.'.format(
                    ', '.join([f.family_id for f in missing_families])
                ))

        # Lift-over saved variants
        saved_variants = get_json_for_saved_variants(
            saved_variant_models_by_guid.values(), add_details=True, project=project,
            individual_guids_by_id=individual_guids_by_id)
        saved_variants_to_lift = [v for v in saved_variants if v['genomeVersion'] != GENOME_VERSION_GRCh38]

        num_already_lifted = len(saved_variants) - len(saved_variants_to_lift)
        if num_already_lifted:
            if raw_input('Found {} saved variants already on Hg38. Continue with liftover (y/n)?'.format(num_already_lifted)) != 'y':
                raise Exception('Error: found {} saved variants already on Hg38'.format(num_already_lifted))
        logger.info('Lifting over {} variants (skipping {} that are already lifted)'.format(
            len(saved_variants_to_lift), num_already_lifted))

        liftover_to_38 = LiftOver('hg19', 'hg38')
        hg37_to_hg38_xpos = {}
        lift_failed = set()
        for v in saved_variants_to_lift:
            if not (hg37_to_hg38_xpos.get(v['xpos']) or v['xpos'] in lift_failed):
                hg38_coord = liftover_to_38.convert_coordinate('chr{}'.format(v['chrom'].lstrip('chr')), int(v['pos']))
                if hg38_coord and hg38_coord[0]:
                    hg37_to_hg38_xpos[v['xpos']] = get_xpos(hg38_coord[0][0], hg38_coord[0][1])
                else:
                    lift_failed.add(v['xpos'])

        if lift_failed:
            raise Exception(
                'Unable to lift over the following {} coordinates: {}'.format(len(lift_failed), ', '.join(lift_failed)))

        saved_variants_map = defaultdict(list)
        for v in saved_variants_to_lift:
            variant_model = saved_variant_models_by_guid[v['variantGuid']]
            saved_variants_map[(hg37_to_hg38_xpos[v['xpos']], v['ref'], v['alt'])].append(variant_model)

        es_variants = get_es_variants_for_variant_tuples(expected_families, saved_variants_map.keys())

        missing_variants = set(saved_variants_map.keys()) - {(v['xpos'], v['ref'], v['alt']) for v in es_variants}
        if missing_variants:
            missing_variant_strings = ['{}-{}-{} ({})'.format(
                xpos, ref, alt,
                ', '.join(['{}: {}'.format(v.family.family_id, v.guid) for v in saved_variants_map[(xpos, ref, alt)]]))
                for xpos, ref, alt in missing_variants]
            if raw_input('Unable to find the following {} variants in the index. Continue with update (y/n)?: {} '.format(
                    len(missing_variants), ', '.join(missing_variant_strings))) != 'y':
                raise Exception('Error: unable to find {} lifted-over variants'.format(len(missing_variants)))

        logger.info('Successfully lifted over {} variants'.format(len(es_variants)))

        #  Update saved variants
        for var in es_variants:
            saved_variant_models = saved_variants_map[(var['xpos'], var['ref'], var['alt'])]
            missing_families = [v.family.guid for v in saved_variant_models if v.family.guid not in var['familyGuids']]
            if missing_families:
                raise Exception('Error with variant {}:{}-{}-{} not find for expected families {}; found in families {}'.format(
                    var['chrom'], var['pos'], var['ref'], var['alt'], ', '.join(missing_families), ', '.join(var['familyGuids'])
                ))
            for saved_variant in saved_variant_models:
                saved_variant.xpos_start = var['xpos']
                saved_variant.saved_variant_json = json.dumps(var)
                saved_variant.save()

        logger.info('Successfully updated {} variants'.format(len(es_variants)))

        # Update project and sample data
        update_model_from_json(project, {'genome_version': GENOME_VERSION_GRCh38, 'has_new_search': True})
        _update_samples(
            matched_sample_id_to_sample_record, elasticsearch_index=elasticsearch_index, dataset_path=dataset_path
        )
        update_xbrowse_vcfffiles(
            project, sample_type, elasticsearch_index, dataset_path, matched_sample_id_to_sample_record
        )

        reset_cached_search_results(project)

        logger.info('---Done---')
        logger.info('Succesfully lifted over {} variants. Skipped {} failed variants.'.format(
            len(es_variants), len(missing_variants)))