def test_calc_missing_gt_rates(self):
gts = numpy.array([])
varis = {'/calls/GT': gts}
called_vars = calc_called_gt(varis, rates=False)
assert called_vars.shape[0] == 0
called_vars = calc_called_gt(varis, rates=True)
assert called_vars.shape[0] == 0
hdf5 = VariationsH5(join(TEST_DATA_DIR, 'ril.hdf5'), mode='r')
arrays = VariationsArrays()
arrays.put_chunks(hdf5.iterate_chunks(kept_fields=['/calls/GT']))
rates = calc_missing_gt(arrays)
rates2 = calc_missing_gt(hdf5)
assert rates.shape == (943,)
assert numpy.allclose(rates, rates2)
assert numpy.min(rates) == 0
assert numpy.all(rates <= 1)
gts = numpy.array([[[0, 0], [0, 0]], [[0, 0], [-1, -1]],
[[0, 0], [-1, -1]], [[-1, -1], [-1, -1]]])
varis = {'/calls/GT': gts}
expected = numpy.array([2, 1, 1, 0])
called_vars = calc_called_gt(varis, rates=False)
assert numpy.all(called_vars == expected)
missing_vars = calc_missing_gt(varis, rates=False)
assert numpy.all(missing_vars == 2 - expected)
expected = numpy.array([0, 0.5, 0.5, 1])
rates = calc_called_gt(varis)
assert numpy.allclose(rates, 1 - expected)
rates = calc_missing_gt(varis)
assert numpy.allclose(rates, expected)
def test_calc_missing_gt_rates(self):
gts = numpy.array([])
varis = {'/calls/GT': gts}
called_vars = calc_called_gt(varis, rates=False)
assert called_vars.shape[0] == 0
called_vars = calc_called_gt(varis, rates=True)
assert called_vars.shape[0] == 0
hdf5 = VariationsH5(join(TEST_DATA_DIR, 'ril.hdf5'), mode='r')
arrays = VariationsArrays()
arrays.put_chunks(hdf5.iterate_chunks(kept_fields=['/calls/GT']))
rates = calc_missing_gt(arrays)
rates2 = calc_missing_gt(hdf5)
assert rates.shape == (943,)
assert numpy.allclose(rates, rates2)
assert numpy.min(rates) == 0
assert numpy.all(rates <= 1)
gts = numpy.array([[[0, 0], [0, 0]], [[0, 0], [-1, -1]],
[[0, 0], [-1, -1]], [[-1, -1], [-1, -1]]])
varis = {'/calls/GT': gts}
expected = numpy.array([2, 1, 1, 0])
called_vars = calc_called_gt(varis, rates=False)
assert numpy.all(called_vars == expected)
missing_vars = calc_missing_gt(varis, rates=False)
assert numpy.all(missing_vars == 2 - expected)
expected = numpy.array([0, 0.5, 0.5, 1])
rates = calc_called_gt(varis)
assert numpy.allclose(rates, 1 - expected)
rates = calc_missing_gt(varis)
assert numpy.allclose(rates, expected)
def _calc_sample_missing_rates(variations, chunk_size, min_called_rate,
max_het):
if chunk_size is None:
chunks = [variations]
else:
chunks = variations.iterate_chunks(kept_fields=[GT_FIELD],
chunk_size=chunk_size)
missing = None
het_counts = None
for chunk in chunks:
chunk_missing = calc_called_gt(chunk, rates=False, axis=0)
if min_called_rate is not None:
if missing is None:
missing = chunk_missing
else:
missing += chunk_missing
if max_het is not None:
is_het = call_is_het(chunk[GT_FIELD])
chunk_het_counts = numpy.sum(is_het, axis=0)
if het_counts is None:
het_counts = chunk_het_counts
else:
het_counts += chunk_het_counts
res = {}
if min_called_rate is not None:
rates = missing / variations.num_variations
res['missing_rates'] = rates
if max_het is not None:
obs_hets = het_counts / variations.num_variations
res['obs_hets'] = obs_hets
return res
def calc_number_of_alleles_and_number_called_gts(
variations,
populations=None,
pop_sample_filters=None,
min_num_genotypes=MIN_NUM_GENOTYPES_FOR_POP_STAT):
pop_sample_filters = _prepare_pop_sample_filters(populations,
pop_sample_filters)
num_alleles_per_snp = {}
num_called_gt = {}
for pop_id, pop_sample_filter in pop_sample_filters.items():
vars_for_pop = pop_sample_filter(variations)[FLT_VARS]
allele_counts_per_allele_and_snp = _count_alleles_per_allele_and_snp(
vars_for_pop)
chunk_num_alleles_per_snp = numpy.sum(
allele_counts_per_allele_and_snp != 0, axis=1)
chunk_num_alleles_per_snp = _mask_stats_with_few_samples(
chunk_num_alleles_per_snp,
vars_for_pop,
min_num_genotypes,
masking_value=0)
num_alleles_per_snp[pop_id] = chunk_num_alleles_per_snp
num_called_gt[pop_id] = calc_called_gt(vars_for_pop, rates=False)
return num_alleles_per_snp, num_called_gt
def _calc_sample_missing_rates(variations, chunk_size):
if chunk_size is None:
chunks = [variations]
else:
chunks = variations.iterate_chunks(kept_fields=[GT_FIELD],
chunk_size=chunk_size)
missing = None
for chunk in chunks:
chunk_missing = calc_called_gt(chunk, rates=False, axis=0)
if missing is None:
missing = chunk_missing
else:
missing += chunk_missing
rates = missing / variations.num_variations
return rates
def _calc_stat(self, variations):
return calc_called_gt(variations, rates=self.rates)
def _calc_stat(self, variations):
return calc_called_gt(variations, rates=self.rates)
def calc_number_of_private_alleles(
variations,
populations=None,
pop_sample_filters=None,
min_num_genotypes=MIN_NUM_GENOTYPES_FOR_POP_STAT):
pop_sample_filters = _prepare_pop_sample_filters(populations,
pop_sample_filters)
if len(pop_sample_filters) < 2:
raise ValueError('At least two populations are required')
different_alleles = numpy.sort(numpy.unique(variations[GT_FIELD]))
if different_alleles[0] == MISSING_INT:
different_alleles = different_alleles[1:]
tot_num_called_gts = calc_called_gt(variations, rates=False)
allele_counts_per_pop_per_allele_and_snp = {}
not_enough_genotypes_masks = {}
for pop_id, pop_sample_filter in pop_sample_filters.items():
vars_for_pop = pop_sample_filter(variations)[FLT_VARS]
allele_counts = _count_alleles_per_allele_and_snp(
vars_for_pop, different_alleles)
if min_num_genotypes:
num_called_gts_in_pop = calc_called_gt(vars_for_pop, rates=False)
num_called_gts_in_other_pops = tot_num_called_gts - num_called_gts_in_pop
mask = numpy.logical_or(
num_called_gts_in_pop < min_num_genotypes,
num_called_gts_in_other_pops < min_num_genotypes)
not_enough_genotypes_masks[pop_id] = mask
allele_counts_per_pop_per_allele_and_snp[pop_id] = allele_counts
private_alleles = {}
for pop_id in pop_sample_filters:
other_pops_allele_counts = None
for other_pop in pop_sample_filters:
if other_pop == pop_id:
continue
pop_counts = allele_counts_per_pop_per_allele_and_snp[other_pop]
if other_pops_allele_counts is None:
other_pops_allele_counts = pop_counts
else:
other_pops_allele_counts = numpy.add(other_pops_allele_counts,
pop_counts)
this_pop_allele_counts = allele_counts_per_pop_per_allele_and_snp[
pop_id]
alleles_present_in_this_pop = this_pop_allele_counts > 0
alleles_not_present_in_other_pops = other_pops_allele_counts == 0
alleles_present_in_this_pop_not_in_others = numpy.logical_and(
alleles_present_in_this_pop, alleles_not_present_in_other_pops)
private_alleles_for_pop = numpy.sum(
alleles_present_in_this_pop_not_in_others, axis=1)
if min_num_genotypes:
mask = not_enough_genotypes_masks[pop_id]
private_alleles_for_pop[mask] = 0
private_alleles[pop_id] = private_alleles_for_pop
return private_alleles
