def summary_ccr(ht_ccr: hl.Table,
file_output: str,
ccr_pct_start: int = 0,
ccr_pct_end: int = 100,
ccr_pct_bins: int = 10,
cumulative_histogram: bool = False,
ccr_pct_cutoffs=None) -> None:
"""
Summarize Coding Constrain Region information (as histogram) per gene.
:param ht_ccr: CCR Hail table
:param file_output: File output path
:param ccr_pct_start: Start of histogram range.
:param ccr_pct_end: End of histogram range
:param ccr_pct_bins: Number of bins
:param cumulative_histogram: Generate a cumulative histogram (rather than to use bins)
:param ccr_pct_cutoffs: Cut-offs used to generate the cumulative histogram
:return: None
"""
if ccr_pct_cutoffs is None:
ccr_pct_cutoffs = [90, 95, 99]
if cumulative_histogram:
# generate cumulative counts histogram
summary_tb = (ht_ccr
.group_by('gene')
.aggregate(**{'ccr_above_' + str(ccr_pct_cutoffs[k]): agg.filter(ht_ccr.ccr_pct >=
ccr_pct_cutoffs[k], agg.count())
for k in range(0, len(ccr_pct_cutoffs))})
)
else:
summary_tb = (ht_ccr
.group_by('gene')
.aggregate(ccr_bins=agg.hist(ht_ccr.ccr_pct, ccr_pct_start, ccr_pct_end, ccr_pct_bins))
)
# get bin edges as list (expected n_bins + 1)
bin_edges = summary_tb.aggregate(agg.take(summary_tb.ccr_bins.bin_edges, 1))[0]
# unpack array structure and annotate as individual fields
summary_tb = (summary_tb
.annotate(**{'ccr_bin_' + str(bin_edges[k]) + '_' + str(bin_edges[k + 1]):
summary_tb.ccr_bins.bin_freq[k] for k in range(0, len(bin_edges) - 1)})
.flatten()
)
# drop fields
fields_to_drop = ['ccr_bins.bin_edges', 'ccr_bins.bin_freq']
summary_tb = (summary_tb
.drop(*fields_to_drop)
)
# Export summarized table
(summary_tb
.export(output=file_output)
)
def test_aggregate2(self):
schema = hl.tstruct(status=hl.tint32, GT=hl.tcall, qPheno=hl.tint32)
rows = [{'status': 0, 'GT': hl.Call([0, 0]), 'qPheno': 3},
{'status': 0, 'GT': hl.Call([0, 1]), 'qPheno': 13}]
kt = hl.Table.parallelize(rows, schema)
result = convert_struct_to_dict(
kt.group_by(status=kt.status)
.aggregate(
x1=agg.collect(kt.qPheno * 2),
x2=agg.explode(lambda elt: agg.collect(elt), [kt.qPheno, kt.qPheno + 1]),
x3=agg.min(kt.qPheno),
x4=agg.max(kt.qPheno),
x5=agg.sum(kt.qPheno),
x6=agg.product(hl.int64(kt.qPheno)),
x7=agg.count(),
x8=agg.count_where(kt.qPheno == 3),
x9=agg.fraction(kt.qPheno == 1),
x10=agg.stats(hl.float64(kt.qPheno)),
x11=agg.hardy_weinberg_test(kt.GT),
x13=agg.inbreeding(kt.GT, 0.1),
x14=agg.call_stats(kt.GT, ["A", "T"]),
x15=agg.collect(hl.Struct(a=5, b="foo", c=hl.Struct(banana='apple')))[0],
x16=agg.collect(hl.Struct(a=5, b="foo", c=hl.Struct(banana='apple')).c.banana)[0],
x17=agg.explode(lambda elt: agg.collect(elt), hl.null(hl.tarray(hl.tint32))),
x18=agg.explode(lambda elt: agg.collect(elt), hl.null(hl.tset(hl.tint32))),
x19=agg.take(kt.GT, 1, ordering=-kt.qPheno)
).take(1)[0])
expected = {u'status': 0,
u'x13': {u'n_called': 2, u'expected_homs': 1.64, u'f_stat': -1.777777777777777,
u'observed_homs': 1},
u'x14': {u'AC': [3, 1], u'AF': [0.75, 0.25], u'AN': 4, u'homozygote_count': [1, 0]},
u'x15': {u'a': 5, u'c': {u'banana': u'apple'}, u'b': u'foo'},
u'x10': {u'min': 3.0, u'max': 13.0, u'sum': 16.0, u'stdev': 5.0, u'n': 2, u'mean': 8.0},
u'x8': 1, u'x9': 0.0, u'x16': u'apple',
u'x11': {u'het_freq_hwe': 0.5, u'p_value': 0.5},
u'x2': [3, 4, 13, 14], u'x3': 3, u'x1': [6, 26], u'x6': 39, u'x7': 2, u'x4': 13, u'x5': 16,
u'x17': [],
u'x18': [],
u'x19': [hl.Call([0, 1])]}
self.maxDiff = None
self.assertDictEqual(result, expected)
def test_aggregate2(self):
schema = hl.tstruct(status=hl.tint32, GT=hl.tcall, qPheno=hl.tint32)
rows = [{'status': 0, 'GT': hl.Call([0, 0]), 'qPheno': 3},
{'status': 0, 'GT': hl.Call([0, 1]), 'qPheno': 13}]
kt = hl.Table.parallelize(rows, schema)
result = convert_struct_to_dict(
kt.group_by(status=kt.status)
.aggregate(
x1=agg.collect(kt.qPheno * 2),
x2=agg.explode(lambda elt: agg.collect(elt), [kt.qPheno, kt.qPheno + 1]),
x3=agg.min(kt.qPheno),
x4=agg.max(kt.qPheno),
x5=agg.sum(kt.qPheno),
x6=agg.product(hl.int64(kt.qPheno)),
x7=agg.count(),
x8=agg.count_where(kt.qPheno == 3),
x9=agg.fraction(kt.qPheno == 1),
x10=agg.stats(hl.float64(kt.qPheno)),
x11=agg.hardy_weinberg_test(kt.GT),
x13=agg.inbreeding(kt.GT, 0.1),
x14=agg.call_stats(kt.GT, ["A", "T"]),
x15=agg.collect(hl.Struct(a=5, b="foo", c=hl.Struct(banana='apple')))[0],
x16=agg.collect(hl.Struct(a=5, b="foo", c=hl.Struct(banana='apple')).c.banana)[0],
x17=agg.explode(lambda elt: agg.collect(elt), hl.null(hl.tarray(hl.tint32))),
x18=agg.explode(lambda elt: agg.collect(elt), hl.null(hl.tset(hl.tint32))),
x19=agg.take(kt.GT, 1, ordering=-kt.qPheno)
).take(1)[0])
expected = {u'status': 0,
u'x13': {u'n_called': 2, u'expected_homs': 1.64, u'f_stat': -1.777777777777777,
u'observed_homs': 1},
u'x14': {u'AC': [3, 1], u'AF': [0.75, 0.25], u'AN': 4, u'homozygote_count': [1, 0]},
u'x15': {u'a': 5, u'c': {u'banana': u'apple'}, u'b': u'foo'},
u'x10': {u'min': 3.0, u'max': 13.0, u'sum': 16.0, u'stdev': 5.0, u'n': 2, u'mean': 8.0},
u'x8': 1, u'x9': 0.0, u'x16': u'apple',
u'x11': {u'het_freq_hwe': 0.5, u'p_value': 0.5},
u'x2': [3, 4, 13, 14], u'x3': 3, u'x1': [6, 26], u'x6': 39, u'x7': 2, u'x4': 13, u'x5': 16,
u'x17': [],
u'x18': [],
u'x19': [hl.Call([0, 1])]}
self.maxDiff = None
self.assertDictEqual(result, expected)
